Mutational spectrum of ATP7B mutations causing Wilson's disease.

被引:0
|
作者
Genschel, J
Deguti, M
Tarnacka, B
Zhu, S
Najmabadi, H
Socha, P
Bochow, B
Sommer, G
Golsorkhi, H
Zali, MR
Pokojski, S
Liang, XL
Cancado, EL
Barbosa, ED
Lochs, H
Schmidt, H
机构
[1] Inst Psychiat & Neurol, Dept Neurol, Warsaw, Poland
[2] Univ Sao Paulo, Sch Med, Dept Gastroenterol, Sao Paulo, Brazil
[3] Sun Yat Sen Univ Med Sci, Affiliated Hosp 1, Dept Neurol, Guangzhou, Peoples R China
[4] Res Ctr Gastroenterol & Liver Transplantat, Tehran, Iran
[5] Childrens Mem Hlth Inst, Dept Gastroenterol Hepatol & Nutr, Warsaw, Poland
[6] Univ Sao Paulo, Sch Med, Dept Neurol, Sao Paulo, Brazil
关键词
D O I
暂无
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
688
引用
收藏
页码:335A / 335A
页数:1
相关论文
共 50 条
  • [1] Mutational analysis of ATP7B gene in Chinese patients with Wilson disease.
    Liu, X
    Zhang, YF
    Chen, RG
    Gu, XF
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 295 - 295
  • [2] Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson's Disease
    Bayazutdinova, G. M.
    Shchagina, O. A.
    Karunas, A. S.
    Vyalova, N. V.
    Sokolov, A. A.
    Polyakov, A. V.
    RUSSIAN JOURNAL OF GENETICS, 2019, 55 (12) : 1528 - 1535
  • [3] Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease
    G. M. Bayazutdinova
    O. A. Shchagina
    A. S. Karunas
    N. V. Vyalova
    A. A. Sokolov
    A. V. Polyakov
    Russian Journal of Genetics, 2019, 55 : 1528 - 1535
  • [4] 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
  • [5] Mutations in ATP7B gene on suspected Wilson's disease
    Al Jumah, M.
    Al Abdulkareem, I.
    Al Blawi, M.
    Majumdar, R.
    Al Traif, I.
    Al Zaben, A.
    Al Jumah, A.
    JOURNAL OF NEUROLOGY, 2008, 255 : 67 - 68
  • [6] Neurological manifestations and ATP7B mutations in Wilson's disease
    Costa Machado, Alexandre Aluizio
    Deguti, Marta Mitiko
    Genschel, Janine
    Rachid Cancado, Eduardo Luiz
    Bochow, Bettina
    Schmidt, Hartmut
    Barbosa, Egberto Reis
    PARKINSONISM & RELATED DISORDERS, 2008, 14 (03) : 246 - 249
  • [7] Gene analysis of ATP7B in Japanese patients with Wilson's disease.
    Okada, T
    Shiono, Y
    Hayashi, H
    Yano, M
    Mabuchi, H
    GASTROENTEROLOGY, 2000, 118 (04) : A1477 - A1477
  • [8] Mutational analysis of ATP7B in Chinese Wilson disease patients
    Hua, Rui
    Hua, Fang
    Jiao, Yonggeng
    Pan, Yu
    Yang, Xu
    Peng, Shanshan
    Niu, Junqi
    AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH, 2016, 8 (06): : 2851 - 2861
  • [9] Spectrum of the ATP7B gene mutations in 52 Saudi patients with Wilson disease
    Al Jumah, M
    Majumdar, R
    Al Rajeh, S
    Al Zaben, A
    Awada, A
    Al Traif, I
    Al Jumah, A
    Al Uthaim, S
    Rehana, Z
    NEUROLOGY, 2001, 56 (08) : A131 - A131
  • [10] Mutational analysis of ATP7B in Chinese Wilson disease patients
    Peng, Shan S.
    Qi, Lingxia
    Cui, Yuanyuan
    Kong, Wenli
    Ma, Linyuan
    Pan, Yu
    Niu, Junqi
    Hua, Rui
    HEPATOLOGY, 2015, 62 : 1235A - 1235A