Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease

被引：0
作者：
Juan Geng
Jian Wang
Ru-En Yao
Xiao-Qing Liu
Qi-Hua Fu
机构：
[1] Shanghai Jiaotong University School of Medicine,Department of Laboratory Medicine, Shanghai Children’s Medical Center
[2] Shanghai Jiaotong University School of Medicine,Division of Birth Defects Research, Institute of Pediatric Translational Medicine, Shanghai Children’s Medical Center
[3] Shanghai Jiaotong University School of Medicine,Department of Pediatric Internal Medicine, Shanghai Children’s Medical Center
[4] Shanghai Jiaotong University School of Medicine,Department of Laboratory Medicine, Shanghai Children’s Medical Center
来源：
World Journal of Pediatrics | 2013年 / 9卷
关键词：
gene; mutation; Wilson disease;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：158 / 162
页数：4
相关论文
共 50 条
[21]   Mutations in the ATP7B Gene in Ukrainian Patients with High Risk of Wilson’s Disease [J].
H. Makukh ;
I. Hayboniuk ;
A. Zarina ;
O. M. Semeriak ;
L. Gailite .
Cytology and Genetics, 2020, 54 :324-332
[22]   Mutation analysis of Wilson disease in the Spanish population -: identification of a prevalent substitution and eight novel mutations in the ATP7B gene [J].
Margarit, E ;
Bach, V ;
Gómez, D ;
Bruguera, M ;
Jara, P ;
Queralt, R ;
Ballesta, F .
CLINICAL GENETICS, 2005, 68 (01) :61-68
[23]   Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene [J].
Chappuis, Philippe ;
Callebert, Jacques ;
Quignon, Valerie ;
Woimant, France ;
Laplanche, Jean-Louis .
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY, 2007, 21 (01) :37-42
[24]   Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications [J].
Kumari, Niti ;
Kumar, Aman ;
Thapa, Babu Ram ;
Modi, Manish ;
Pal, Arnab ;
Prasad, Rajendra .
HUMAN MUTATION, 2018, 39 (12) :1926-1941
[25]   Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations [J].
Wei, Zhisheng ;
Huang, Yeqing ;
Liu, Aiqun ;
Diao, Shengpeng ;
Yu, Qingyun ;
Peng, Zhongxing ;
Hong, Mingfan .
NEUROREPORT, 2014, 25 (14) :1075-1080
[26]   New novel mutation of the ATP7B gene in a family with Wilson disease [J].
Lee, Jun-Young ;
Kim, Young-Hyun ;
Kim, Tae-Woo ;
Oh, Sun-Young ;
Kim, Dal-Sik ;
Shin, Byoung-Soo .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2012, 313 (1-2) :129-131
[27]   Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease [J].
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
[28]   Functional Analysis of Mutations in the ATP Loop of the Wilson Disease Copper Transporter, ATP7B [J].
Luoma, Leiah M. ;
Deeb, Taha M. M. ;
Macintyre, Georgina ;
Cox, Diane W. .
HUMAN MUTATION, 2010, 31 (05) :569-577
[29]   Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: A case report [J].
Daneshjoo O. ;
Garshasbi M. .
Journal of Medical Case Reports, 12 (1)
[30]   Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology [J].
Huster, D ;
Weizenegger, M ;
Kress, S ;
Mössner, J ;
Caca, K .
CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2004, 42 (05) :507-510
12345