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
来源：
HEPATOLOGY | 2002年 / 36卷 / 04期
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
  • [31] Identification of two novel mutations in the ATP7B gene that cause Wilson's disease
    Zhu, Hong-Wen
    Tao, Zhong-Bin
    Su, Gang
    Jin, Qiao-Ying
    Zhao, Liang-Tao
    Zhu, Jia-Rui
    Yan, Jun
    Yu, Tian-Yu
    Ding, Jie-Xian
    Li, Yu-Min
    WORLD JOURNAL OF PEDIATRICS, 2017, 13 (04) : 387 - 391
  • [32] Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease
    Qian, Zhiling
    Cui, Xiongwei
    Huang, Yunli
    Liu, Yanmin
    Li, Ning
    Zheng, Sujun
    Jiang, Jun
    Cui, Shichang
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (05):
  • [33] Six novel ATP7B mutations in Thai patients with Wilson disease
    Panichareon, Benjaporn
    Taweechue, Krailerk
    Thongnoppakhun, Wanna
    Aksornworanart, Monthikan
    Pithukpakorn, Manop
    Yenchitsomanus, Pa-thai
    Limwongse, Chanin
    Limjindaporn, Thawornchai
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (02) : 103 - 107
  • [34] 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
  • [35] Identification of two novel mutations in the ATP7B gene that cause Wilson’s disease
    Hong-Wen Zhu
    Zhong-Bin Tao
    Gang Su
    Qiao-Ying Jin
    Liang-Tao Zhao
    Jia-Rui Zhu
    Jun Yan
    Tian-Yu Yu
    Jie-Xian Ding
    Yu-Min Li
    World Journal of Pediatrics, 2017, 13 : 387 - 391
  • [36] Novel mutations of the ATP7B gene in Japanese patients with Wilson disease
    Kusuda, Y
    Hamaguchi, K
    Mori, T
    Shin, R
    Seike, M
    Sakata, T
    JOURNAL OF HUMAN GENETICS, 2000, 45 (02) : 86 - 91
  • [37] 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
  • [38] 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
  • [39] 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
  • [40] Mutations in genes coding for ATP7A and ATP7B (causing Menkes and Wilson diseases) in Czech Republic
    Pospisilova, L.
    Kralik, L.
    Flachsova, E.
    Marecek, Z.
    Hansikova, H.
    Bruha, R.
    Fruhauf, P.
    Zeman, J.
    Martasek, P.
    FEBS JOURNAL, 2006, 273 : 309 - 310
12345