Identification and characterization of a novel splice-site mutation in the Wilson disease gene-Reference-Cited by-同舟云学术

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Identification and characterization of a novel splice-site mutation in the Wilson disease gene

Published:2014-10 Issue:1-2 Volume:345 Page:154-158
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Diao Sheng-Peng,Hong Ming-Fan,Huang Ye-Qing,Wei Zhi-Sheng,Su Quan-Xi,Peng Zhong-Xing,Yu Qing-Yun,Liu Ai-Qun,Chen Jin,Hu Li

Funder

Science & Technology Program of Guangdong Province

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference26 articles.

1. Diagnosing Wilson disease;Yarze;Ann Intern Med,1992

2. Wilson's disease;Ala;Lancet,2007

3. Wilson disease;Gitlin;Gastroenterology,2003

4. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene;Petrukhin;Nat Genet,1993

5. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. First application of next-generation sequencing in four families with Wilson disease in Morocco;Egyptian Journal of Medical Human Genetics;2023-09-16

2. A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene;Frontiers in Genetics;2021-02-25

3. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B;Journal of Genetics;2017-12

4. Wilson’s Disease in China;Neuroscience Bulletin;2017-03-06

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