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
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
  • [21] 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
  • [22] Molecular study of ATP7B gene mutations in Thai patients with Wilson disease
    Taweechue, K.
    Panichareon, B.
    Thongnoppakhun, W.
    Yenchitsomanus, P.
    Limwongse, C.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 285 : S269 - S269
  • [23] Mutational spectrum of ATP7B mutations causing Wilson's disease.
    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
    HEPATOLOGY, 2002, 36 (04) : 335A - 335A
  • [24] 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
  • [25] Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease
    Dastsooz, Hassan
    Imanieh, Mohammad Hadi
    Dehghani, Seyed Mohsen
    Haghighat, Mahmood
    Moini, Maryam
    Fardaei, Majid
    HEPATITIS MONTHLY, 2013, 13 (05)
  • [26] Patients with Wilson disease without detectable ATP7B mutations
    Staettermayer, Albert
    Zoller, Heinz M.
    Weiss, Karl Heinz
    Szalay, Ferenc
    Bruha, Radan
    Houwen, Roderick
    Stauber, Rudolf E.
    Steindl-Munda, Petra E.
    Hofer, Harald
    Stremmel, Wolfgang
    Ferenci, Peter
    HEPATOLOGY, 2014, 60 : 428A - 428A
  • [27] Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations
    Wei, Zhisheng
    Huang, Yeqing
    Liu, Aiqun
    Diao, Shengpeng
    Yu, Qingyun
    Peng, Zhongxing
    Hong, Mingfan
    NEUROREPORT, 2014, 25 (14) : 1075 - 1080
  • [28] Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease
    Juan Geng
    Jian Wang
    Ru-En Yao
    Xiao-Qing Liu
    Qi-Hua Fu
    World Journal of Pediatrics, 2013, 9 : 158 - 162
  • [29] Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease
    Geng, Juan
    Wang, Jian
    Yao, Ru-En
    Liu, Xiao-Qing
    Fu, Qi-Hua
    WORLD JOURNAL OF PEDIATRICS, 2013, 9 (02) : 158 - 162
  • [30] Identification of mutations in the ATP7B gene in 14 Wilson disease children Case series
    Wang, Jiuxiang
    Tang, Lulu
    Xu, Anqi
    Zhang, Shijie
    Jiang, Hailin
    Pei, Pei
    Li, Hongmei
    Lv, Tingting
    Yang, Yue
    Qian, Nannan
    Naidu, Keegan
    Yang, Wenming
    MEDICINE, 2021, 100 (16) : E25463