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
  • [1] Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease
    Yoo, HW
    GENETICS IN MEDICINE, 2002, 4 (06) : 43S - 48S
  • [2] Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease
    Park, Sangwook
    Park, Jungyoung
    Kim, Gu-Hwan
    Choi, Jin-Ho
    Kim, Kyung-Mo
    Kim, Jong-Bae
    Yoo, Han-Wook
    HUMAN MUTATION, 2007, 28 (11) : 1108 - 1113
  • [3] Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease
    Nguyen Thi Mai Huong
    Nguyen Thi Kim Lien
    Ngo Diem Ngoc
    Nguyen Thi Phuong Mai
    Nguyen Pham Anh Hoa
    Le Thanh Hai
    Phan Van Chi
    Ta Thanh Van
    Tran Van Khanh
    Nguyen Huy Hoang
    BMC MEDICAL GENETICS, 2018, 19
  • [4] 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
  • [5] Novel mutations of the ATP7B gene in Japanese patients with Wilson disease
    Yoichiro Kusuda
    Kazuyuki Hamaguchi
    Tetsu Mori
    Rie Shin
    Masataka Seike
    Toshiie Sakata
    Journal of Human Genetics, 2000, 45 : 86 - 91
  • [6] ATP7B Gene Mutations in Croatian Patients with Wilson Disease
    Ljubic, Hana
    Kalauz, Mirjana
    Telarovic, Srdana
    Ferenci, Peter
    Ostojic, Rajko
    Noli, Maria Cristina
    Lepori, Maria Barbara
    Hrstic, Irena
    Vukovic, Jurica
    Premuzic, Marina
    Radic, Davor
    Ravic, Katja Grubelic
    Sertic, Jadranka
    Merkler, Ana
    Barisic, Ana Acman
    Loudianos, Georgios
    Vucelic, Boris
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2016, 20 (03) : 112 - 117
  • [7] 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
  • [8] 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
  • [9] Common mutations of ATP7B in Wilson disease patients from Hungary
    Firneisz, G
    Lakatos, PL
    Szalay, F
    Polli, C
    Glant, TT
    Ferenci, P
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (01): : 23 - 28
  • [10] Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations
    Papur, Ozlenen Simsek
    Akman, Sezin Asik
    Cakmur, Raif
    Terzioglu, Orhan
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2013, 56 (04) : 175 - 179
12345