Identification of a novel and heterozygous LMF1 nonsense mutation in an acute pancreatitis patient with severe hypertriglyceridemia, severe obesity and heavy smoking

被引：0

作者：

Wei-Wei Chen

Qi Yang

Xiao-Yao Li

Xiao-Lei Shi

Na Pu

Guo-Tao Lu

Zhi-Hui Tong

Jian-Min Chen

Wei-Qin Li

机构：

[1] Medical School of Nanjing University,Surgical Intensive Care Unit (SICU), Department of General Surgery, Jinling Hospital

[2] Yangzhou University,Department of Gastroenterology, Clinical Medical College

[3] EFS,undefined

[4] Univ Brest,undefined

[5] Inserm,undefined

[6] UMR 1078,undefined

来源：

Lipids in Health and Disease | / 18卷

关键词：

Hypertriglyceridemia; Acute pancreatitis; Lipase maturation factor 1; Mutation;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 35 条

[21] Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy
Shi, Xiao-Lei
Yang, Qi
Pu, Na
Li, Xiao-Yao
Chen, Wei-Wei
Zhou, Jing
Li, Gang
Tong, Zhi-Hui
Ferec, Claude
Cooper, David N.
Chen, Jian-Min
Li, Wei-Qin
MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (03):
[22] Identification of novel biomarkers based on lipid metabolism-related molecular subtypes for moderately severe and severe acute pancreatitis
Liu, Jifeng
Zhong, Lei
Zhang, Yunshu
Ma, Jingyuan
Xie, Tong
Chen, Xu
Zhang, Biao
Shang, Dong
LIPIDS IN HEALTH AND DISEASE, 2024, 23 (01)
[23] Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient
Lu, Yanqin
Dai, Yunzhang
Wang, Yanzhou
Zhai, Naixiang
Zhang, Jian
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Yin, Xiaoli
Li, Tianyou
Ren, Xiuzhi
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INTRACTABLE & RARE DISEASES RESEARCH, 2018, 7 (01) : 19 - 24
[24] Identification of novel biomarkers based on lipid metabolism-related molecular subtypes for moderately severe and severe acute pancreatitis
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Yunshu Zhang
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Xu Chen
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Lipids in Health and Disease, 23
[25] Characterization of a Novel Nonsense Mutation in the Interleukin-7 Receptor α Gene in a Korean Patient with Severe Combined Immunodeficiency
Eun-Kyeong Jo
Hoon Kook
Toru Uchiyama
Ikuko Hakozaki
Young-Ok Kim
Chang-Hwa Song
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International Journal of Hematology, 2004, 80 : 332 - 335
[26] Characterization of a novel nonsense mutation in the interleukin-7 receptor α gene in a Korean patient with severe combined immunodeficiency
Jo, EK
Kook, H
Uchiyama, T
Hakozaki, I
Kim, YO
Song, CH
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Kanegane, H
Tsuchiya, S
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[27] A novel Gly436Glu variant in the LPL gene identified in a Saudi Arabian patient with severe hypertriglyceridemia and recurrent pancreatitis
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Shaik, Noor Ahmad
Awan, Zuhier A.
PRECISION AND FUTURE MEDICINE, 2024, 8 (04): : 178 - 183
[28] Severe Hypertriglyceridemia Possibly Masked Acute Pancreatitis and Led to a Difficult Diagnosis in an Obese Patient with Ketoacidosis-onset Type 2 Diabetes
Fujishiro, Midori
Horita, Akiko
Nakagawara, Hiroshi
Mawatari, Takayuki
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INTERNAL MEDICINE, 2017, 56 (19) : 2611 - 2616
[29] Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking
Li, Xiao-Yao
Zhang, Bei-Yuan
Liang, Xin-Ran
Han, Yan-Yu
Cheng, Min-Hua
Wei, Mei
Cao, Ke
Chen, Xian-Cheng
Chen, Ming
Duan, Jian-Feng
Yu, Wen-Kui
BMC MEDICAL GENOMICS, 2025, 18 (01)
[30] Identification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolism
Milger, Katrin
Holdt, Lesca Miriam
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Behr, Juergen
Kneidinger, Nikolaus
INTERNATIONAL JOURNAL OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE, 2015, 10 : 891 - 897

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