Novel compound heterozygous variants in the XPC gene identified in a Chinese xeroderma pigmentosum group C patient with ovarian teratoma

被引:4
作者
Tang, Lili [1 ,2 ]
Cheng, Yuyan [1 ,2 ]
Zhang, Yuanjing [1 ,2 ]
Ran, Delin [1 ,2 ]
Yang, Chao [1 ,2 ]
Gao, Min [1 ,2 ]
Wang, Peiguang [1 ,2 ]
Zheng, Xiaodong [1 ,2 ]
Yang, Sen [1 ,2 ]
机构
[1] Anhui Med Univ, Affiliated Hosp 1, Dept Dermatol, 218 Jixi Rd, Hefei 230022, Anhui, Peoples R China
[2] Anhui Med Univ, Minist Educ, Key Lab Dermatol, Hefei, Anhui, Peoples R China
关键词
D O I
10.1111/1346-8138.14340
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:E300 / E301
页数:2
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  • [1] Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
    Bradford, Porcia T.
    Goldstein, Alisa M.
    Tamura, Deborah
    Khan, Sikandar G.
    Ueda, Takahiro
    Boyle, Jennifer
    Oh, Kyu-Seon
    Imoto, Kyoko
    Inui, Hiroki
    Moriwaki, Shin-Ichi
    Emmert, Steffen
    Pike, Kristen M.
    Raziuddin, Arati
    Plona, Teri M.
    DiGiovanna, John J.
    Tucker, Margaret A.
    Kraemer, Kenneth H.
    [J]. JOURNAL OF MEDICAL GENETICS, 2011, 48 (03) : 168 - 176
  • [2] Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population
    Hirai, Yuko
    Kodama, Yoshiaki
    Moriwaki, Shin-Ichi
    Noda, Asao
    Cullings, Harry M.
    MacPhee, Donald G.
    Kodama, Kazunori
    Mabuchi, Kiyohiko
    Kraemer, Kenneth H.
    Land, Charles E.
    Nakamura, Nori
    [J]. MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2006, 601 (1-2) : 171 - 178
  • [3] Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
    Kleijer, Wim J.
    Laugel, Vincent
    Berneburg, Mark
    Nardo, Tiziana
    Fawcett, Heather
    Gratchev, Alexei
    Jaspers, Nicolaas G. J.
    Sarasin, Alain
    Stefanini, Miria
    Lehmann, Alan R.
    [J]. DNA REPAIR, 2008, 7 (05) : 744 - 750
  • [4] The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: Autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D)
    Lai J.-P.
    Liu Y.-C.
    Alimchandani M.
    Liu Q.
    Aung P.P.
    Matsuda K.
    Lee C.-C.R.
    Tsokos M.
    Hewitt S.
    Rushing E.J.
    Tamura D.
    Levens D.L.
    DiGiovanna J.J.
    Fine H.A.
    Patronas N.
    Khan S.G.
    Kleiner D.E.
    Oberholtzer J.C.
    Quezado M.M.
    Kraemer K.H.
    [J]. Acta Neuropathologica Communications, 1 (1)
  • [5] Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations
    Schaefer, Annika
    Hofmann, Lars
    Gratchev, Alexei
    Laspe, Petra
    Schubert, Steffen
    Schuerer, Anke
    Ohlenbusch, Andreas
    Tzvetkov, Mladen
    Hallermann, Christian
    Reichrath, Joerg
    Schoen, Michael P.
    Emmert, Steffen
    [J]. EXPERIMENTAL DERMATOLOGY, 2013, 22 (01) : 24 - 29