ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson’s Disease with Adrenocortical Insufficiency

Published:2017-11-28 Issue:1 Volume:64 Page:20-28
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Liu Min,Jin Meifang,Chen Xuqin,Wan Bo,Guo Yue,Sheng Mao,Chen Linqi,Zhao Lei,Huang Danping,Li Yan

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/article/10.1007/s12031-017-0997-7/fulltext.html

Reference34 articles.

1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML (2007) Wilson’s disease. Lancet 369(9559):397–408. https://doi.org/10.1016/S0140-6736(07)60196-2

2. Chuang LM, Wu HP, Jang MH, Wang TR, Sue WC, Lin BJ, Cox DW, Tai TY (1996) High frequency of two mutations in codon 778 in exon 8 of the atp7b gene in Taiwanese families with Wilson disease. J Med Genet 33(6):521

3. Das SK, Ray K (2006) Wilson’s disease: an update. Nat Clin Pract Neurol 2(9):482–493. https://doi.org/10.1038/ncpneuro0291

4. Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY (2016) Spectrum and classification of ATP7B variants in a large cohort of Chinese patients with Wilson’s disease guides genetic diagnosis. Theranostics 6(5):638–649. https://doi.org/10.7150/thno.14596

5. Evans J, Zerpa H, Nuttall L, Boss M, Sherlock S (1983) Copper chelation therapy in intrahepatic cholestasis of childhood. Gut 24(1):42–48. https://doi.org/10.1136/gut.24.1.42

Cited by 1 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. Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant;Molecular Case Studies;2020-06

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3