Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China
被引:2
作者:
Yang, Binyi
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机构:
Cent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Cent South Univ, Res Unit Resp Dis, Changsha, Peoples R China
Hunan Diag & Treatment Ctr Resp Dis, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Yang, Binyi
[1
,2
,3
]
Lei, Cheng
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机构:
Cent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Cent South Univ, Res Unit Resp Dis, Changsha, Peoples R China
Hunan Diag & Treatment Ctr Resp Dis, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Lei, Cheng
[1
,2
,3
]
Yang, Danhui
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机构:
Cent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Cent South Univ, Res Unit Resp Dis, Changsha, Peoples R China
Hunan Diag & Treatment Ctr Resp Dis, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Yang, Danhui
[1
,2
,3
]
Tan, Zhiping
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机构:
Cent South Univ, Dept Cardiovasc Surg, Clin Ctr Gene Diag & Therapy, Xiangya Hosp 2, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Tan, Zhiping
[4
]
Guo, Ting
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机构:
Cent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Cent South Univ, Res Unit Resp Dis, Changsha, Peoples R China
Hunan Diag & Treatment Ctr Resp Dis, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Guo, Ting
[1
,2
,3
]
Luo, Hong
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机构:
Cent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Cent South Univ, Res Unit Resp Dis, Changsha, Peoples R China
Hunan Diag & Treatment Ctr Resp Dis, Changsha, Peoples R ChinaCent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
Luo, Hong
[1
,2
,3
]
机构:
[1] Cent South Univ, Xiangya Hosp 2, Dept Pulm & Crit Care Med, Changsha, Peoples R China
[2] Cent South Univ, Res Unit Resp Dis, Changsha, Peoples R China
[3] Hunan Diag & Treatment Ctr Resp Dis, Changsha, Peoples R China
[4] Cent South Univ, Dept Cardiovasc Surg, Clin Ctr Gene Diag & Therapy, Xiangya Hosp 2, Changsha, Peoples R China
Background Cystic fibrosis (CF) is an autosomal recessive disease caused by genetic variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is a common hereditary disease in Caucasians while rare in the Chinese. Until now, only 87 Chinese patients have been reported with molecular confirmations. The variant spectrum and clinical features of Chinese CF patients are obviously different from those of Caucasians. Materials and Methods Whole-exome sequencing was applied to analyze the exome of three individuals who have only the typical CF phenotype in the respiratory system from two consanguineous families. The protein domain and structure analysis were applied to predict the impact of the variants. Sanger sequencing was applied to validate the candidate variants. Results A previously reported homozygous variant in CFTR (NM_000492.4: c.1000C > T, p.R334W) was identified in proband I. A novel homozygous variant in a polymorphic position (NM_000492.4: c.1409T > A, p.V470E) was identified in two individuals in the family II. The novel CFTR variant predicted to be disease-causing is the first, to the best of our knowledge, to be reported in CFTR. However, in vitro validation is still needed. Conclusion Our finding expands the variant spectrum of CFTR, reveals clearer clinical phenotype distinction and variant spectrum distinction between Chinese and Caucasian CF patients, and contributes to a more rapid genetic diagnosis and future genetic counseling.
机构:
Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R China
Jiangsu Prov Res Inst Geriatr, Dept Urol, Nanjing 210024, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Qiao, Di
Yi, Long
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Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Yi, Long
Hua, Lixin
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h-index: 0
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Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Hua, Lixin
Xu, Zheng
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h-index: 0
机构:
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Xu, Zheng
Ding, Yi
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机构:
Jiangsu Prov Res Inst Geriatr, Dept Urol, Nanjing 210024, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Ding, Yi
Shi, Dongquan
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Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Shi, Dongquan
Ni, Ligang
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Jiangsu Prov Res Inst Geriatr, Dept Urol, Nanjing 210024, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Ni, Ligang
Song, Ninghong
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Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Song, Ninghong
Wang, Yong
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Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Wang, Yong
Wu, Hongfei
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Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
机构:
Queensland Childrens Med Res Inst, Dept Thorac Med, Brisbane, Qld, AustraliaHosp Sick Children, Dept Paediat, Div Resp Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
Bell, Scott C.
Rowe, Steven M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USAHosp Sick Children, Dept Paediat, Div Resp Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
Rowe, Steven M.
Goss, Christopher H.
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Univ Washington, Med Ctr, Div Pulm & Crit Care Med, Seattle, WA 98195 USAHosp Sick Children, Dept Paediat, Div Resp Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Richards, Sue
Aziz, Nazneen
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h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Aziz, Nazneen
Bale, Sherri
论文数: 0引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Bale, Sherri
Bick, David
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Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Bick, David
Das, Soma
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机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Das, Soma
Gastier-Foster, Julie
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h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Gastier-Foster, Julie
Grody, Wayne W.
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h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Grody, Wayne W.
Hegde, Madhuri
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h-index: 0
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Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Hegde, Madhuri
Lyon, Elaine
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h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Lyon, Elaine
Spector, Elaine
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h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Spector, Elaine
Voelkerding, Karl
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h-index: 0
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Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Voelkerding, Karl
Rehm, Heidi L.
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h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
机构:
Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Shen, Yuelin
Liu, Jinrong
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Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Liu, Jinrong
Zhong, Lili
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Hunan Prov Peoples Hosp, Inst Pediat, Changsha, Hunan, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Zhong, Lili
Mogayzel, Peter J., Jr.
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Johns Hopkins Univ, Sch Med, Dept Pediat, Cyst Fibrosis Ctr, Baltimore, MD 21205 USACapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Mogayzel, Peter J., Jr.
Zeitlin, Pamela L.
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Johns Hopkins Univ, Sch Med, Dept Pediat, Cyst Fibrosis Ctr, Baltimore, MD 21205 USACapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Zeitlin, Pamela L.
Sosnay, Patrick R.
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Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USACapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Sosnay, Patrick R.
Zhao, Shunying
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Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
机构:
Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Jiang, Fan
Aleksandrov, Andrei A.
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Univ N Carolina, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA
Univ N Carolina, Cyst Fibrosis Treatment & Res Ctr, Chapel Hill, NC 27599 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Aleksandrov, Andrei A.
Khazanov, Netaly
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Bar Ilan Univ, Dept Chem, IL-5290002 Ramat Gan, IsraelUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Khazanov, Netaly
Zhou, Qingxian
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Univ Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Zhou, Qingxian
An, Jianli
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Univ Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
An, Jianli
Mezzell, Andrew T.
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Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
机构:
Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Ding, Haitao
Riordan, John R.
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机构:
Univ N Carolina, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA
Univ N Carolina, Cyst Fibrosis Treatment & Res Ctr, Chapel Hill, NC 27599 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Riordan, John R.
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Senderowitz, Hanoch
Kappes, John C.
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h-index: 0
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Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USA
Birmingham Vet Affairs Med Ctr, Res Serv, Birmingham, AL 35233 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Kappes, John C.
Brouillette, Christie G.
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机构:
Univ Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
机构:
Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R China
Jiangsu Prov Res Inst Geriatr, Dept Urol, Nanjing 210024, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Qiao, Di
Yi, Long
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h-index: 0
机构:
Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Yi, Long
Hua, Lixin
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h-index: 0
机构:
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Hua, Lixin
Xu, Zheng
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h-index: 0
机构:
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Xu, Zheng
Ding, Yi
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h-index: 0
机构:
Jiangsu Prov Res Inst Geriatr, Dept Urol, Nanjing 210024, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Ding, Yi
Shi, Dongquan
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h-index: 0
机构:
Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Shi, Dongquan
Ni, Ligang
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h-index: 0
机构:
Jiangsu Prov Res Inst Geriatr, Dept Urol, Nanjing 210024, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Ni, Ligang
Song, Ninghong
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h-index: 0
机构:
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Song, Ninghong
Wang, Yong
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Nanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
Wang, Yong
Wu, Hongfei
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h-index: 0
机构:
Nanjing Med Univ, Affiliated Hosp 1, Dept Urol, Nanjing 210029, Peoples R ChinaNanjing Univ, Sch Med, Dept Pathol, Human Genet Identificat Lab, Nanjing 210093, Peoples R China
机构:
Queensland Childrens Med Res Inst, Dept Thorac Med, Brisbane, Qld, AustraliaHosp Sick Children, Dept Paediat, Div Resp Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
Bell, Scott C.
Rowe, Steven M.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USAHosp Sick Children, Dept Paediat, Div Resp Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
Rowe, Steven M.
Goss, Christopher H.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Washington, Med Ctr, Div Pulm & Crit Care Med, Seattle, WA 98195 USAHosp Sick Children, Dept Paediat, Div Resp Med, 555 Univ Ave, Toronto, ON M5G 1X8, Canada
机构:
Oregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Richards, Sue
Aziz, Nazneen
论文数: 0引用数: 0
h-index: 0
机构:
Coll Amer Pathologists, Chicago, IL USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Aziz, Nazneen
Bale, Sherri
论文数: 0引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Bale, Sherri
Bick, David
论文数: 0引用数: 0
h-index: 0
机构:
Med Coll Wisconsin, Dept Pediat, Genet Sect, Milwaukee, WI 53226 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Bick, David
Das, Soma
论文数: 0引用数: 0
h-index: 0
机构:
Univ Chicago, Clin Mol Genet Lab, Dept Human Genet, Chicago, IL 60637 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Das, Soma
Gastier-Foster, Julie
论文数: 0引用数: 0
h-index: 0
机构:
Nationwide Childrens Hosp, Cytogenet Mol Genet Lab, Columbus, OH USA
Ohio State Univ, Coll Med, Dept Pathol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Pediat, Columbus, OH 43210 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Gastier-Foster, Julie
Grody, Wayne W.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Pediat, Los Angeles, CA 90024 USA
Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Grody, Wayne W.
Hegde, Madhuri
论文数: 0引用数: 0
h-index: 0
机构:
Emory Univ, Emory Genet Lab, Dept Human Genet, Atlanta, GA 30322 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Hegde, Madhuri
Lyon, Elaine
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Lyon, Elaine
Spector, Elaine
论文数: 0引用数: 0
h-index: 0
机构:
Univ Colorado, Anschutz Med Sch, Childrens Hosp Colorado, Dept Pediat,Mol Genet Lab, Denver, CO 80202 USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Spector, Elaine
Voelkerding, Karl
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utah, Dept Pathol, ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
Voelkerding, Karl
Rehm, Heidi L.
论文数: 0引用数: 0
h-index: 0
机构:
Brigham & Womens Hosp, Partners Lab Mol Med, Boston, MA 02115 USA
Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
Harvard Univ, Sch Med, Boston, MA USAOregon Hlth & Sci Univ, Knight Diagnost Labs, Dept Mol & Med Genet, Portland, OR 97201 USA
机构:
Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Shen, Yuelin
Liu, Jinrong
论文数: 0引用数: 0
h-index: 0
机构:
Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Liu, Jinrong
Zhong, Lili
论文数: 0引用数: 0
h-index: 0
机构:
Hunan Prov Peoples Hosp, Inst Pediat, Changsha, Hunan, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Zhong, Lili
Mogayzel, Peter J., Jr.
论文数: 0引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Cyst Fibrosis Ctr, Baltimore, MD 21205 USACapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Mogayzel, Peter J., Jr.
Zeitlin, Pamela L.
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h-index: 0
机构:
Johns Hopkins Univ, Sch Med, Dept Pediat, Cyst Fibrosis Ctr, Baltimore, MD 21205 USACapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Zeitlin, Pamela L.
Sosnay, Patrick R.
论文数: 0引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Baltimore, MD USACapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
Sosnay, Patrick R.
Zhao, Shunying
论文数: 0引用数: 0
h-index: 0
机构:
Capital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R ChinaCapital Med Univ, Beijing Childrens Hosp, Dept Resp Med 2, 56 Nanlishi Rd, Beijing 100045, Peoples R China
机构:
Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Jiang, Fan
Aleksandrov, Andrei A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA
Univ N Carolina, Cyst Fibrosis Treatment & Res Ctr, Chapel Hill, NC 27599 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Aleksandrov, Andrei A.
Khazanov, Netaly
论文数: 0引用数: 0
h-index: 0
机构:
Bar Ilan Univ, Dept Chem, IL-5290002 Ramat Gan, IsraelUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Khazanov, Netaly
Zhou, Qingxian
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Zhou, Qingxian
An, Jianli
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
An, Jianli
Mezzell, Andrew T.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
机构:
Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Ding, Haitao
Riordan, John R.
论文数: 0引用数: 0
h-index: 0
机构:
Univ N Carolina, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA
Univ N Carolina, Cyst Fibrosis Treatment & Res Ctr, Chapel Hill, NC 27599 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Riordan, John R.
论文数: 引用数:
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机构:
Senderowitz, Hanoch
Kappes, John C.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Med, 701 19th St South, Birmingham, AL 35294 USA
Birmingham Vet Affairs Med Ctr, Res Serv, Birmingham, AL 35233 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA
Kappes, John C.
Brouillette, Christie G.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USAUniv Alabama Birmingham, Dept Chem, Birmingham, AL 35294 USA