Identification of novel mutations and three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.

被引：0
|
作者：
Kim, GH
Seo, EJ
Yoo, HW
机构：
[1] Univ Ulsan, Coll Med, Asan Med Ctr, Med Genet Clin, Seoul, South Korea
[2] Univ Ulsan, Coll Med, Asan Med Ctr, Med Genet Lab, Seoul, South Korea
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1815
引用
收藏
页码：491 / 491
页数：1
相关论文
共 50 条
  • [31] Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients:: genotype
    Kumar, S
    Thapa, BR
    Kaur, G
    Prasad, R
    CLINICAL GENETICS, 2005, 67 (05) : 443 - 445
  • [32] Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene
    Chappuis, Philippe
    Callebert, Jacques
    Quignon, Valerie
    Woimant, France
    Laplanche, Jean-Louis
    JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY, 2007, 21 (01) : 37 - 42
  • [33] Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population
    Todorov, T
    Savov, A
    Jelev, H
    Panteleeva, E
    Konstantinova, D
    Krustev, Z
    Mihaylova, V
    Tournev, I
    Tankova, L
    Tzolova, N
    Kremensky, I
    CLINICAL GENETICS, 2005, 68 (05) : 474 - 476
  • [34] Mutations of ATP7B gene in two Thai siblings with Wilson disease
    Treepongkaruna, Suporn
    Pienvichit, Paneeya
    Phuapradit, Pornpimon
    Kodcharin, Porawee
    Wattanasirichaigoon, Duangrurdee
    ASIAN BIOMEDICINE, 2010, 4 (01) : 163 - 169
  • [35] New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease
    Lu, Cong-Xia
    Lin, Qing
    Huang, Wen-Qing
    Tzeng, Chi-Meng
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (09) : 498 - 502
  • [36] Geographic distribution of ATP7B mutations in Wilson disease
    Gomes, Amanda
    Dedoussis, George V.
    ANNALS OF HUMAN BIOLOGY, 2016, 43 (01) : 1 - 8
  • [37] Mutations in the ATP7B Gene in Ukrainian Patients with High Risk of Wilson’s Disease
    H. Makukh
    I. Hayboniuk
    A. Zarina
    O. M. Semeriak
    L. Gailite
    Cytology and Genetics, 2020, 54 : 324 - 332
  • [38] Mutations in the ATP7B Gene in Ukrainian Patients with High Risk of Wilson's Disease
    Makukh, H.
    Hayboniuk, I
    Zarina, A.
    Semeriak, O. M.
    Gailite, L.
    CYTOLOGY AND GENETICS, 2020, 54 (04) : 324 - 332
  • [39] ATP7B mutations in Wilson disease patients presenting with liver failure
    Genschel, J
    Bochow, B
    Deguti, M
    Sommer, G
    Cancado, EL
    Neuhaus, P
    Klempnauer, J
    Lochs, H
    Schmidt, HH
    GASTROENTEROLOGY, 2003, 124 (04) : A662 - A662
  • [40] Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations
    Tawhida Y. Abdelghaffar
    Solaf M. Elsayed
    Ezzat Elsobky
    Bettina Bochow
    Janine Büttner
    Hartmut Schmidt
    Journal of Human Genetics, 2008, 53
12345