Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

Published:1998 Issue:4 Volume:11 Page:275-278
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kim Eun Kyung,Yoo Ook Joon,Song Kyu Young,Yoo Han Wook,Choi Sang Yong,Cho Sung Won,Hahn Si Houn

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

2. High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.

3. (1995) Disorders of copper transport. In (eds): The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill, pp 2211-2235.

Cited by 90 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. Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson’s Disease;Cells;2024-07-18

2. A multidisciplinary approach to the diagnosis and management of Wilson disease: 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases;Hepatology;2022-12-07

3. CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B;PLOS ONE;2020-09-30

4. The Prevalence of Wilson’s Disease: An Update;Hepatology;2020-01-31

5. Wilson disease associated with immune thrombocytopenia: A case report and review of the literature;World Journal of Clinical Cases;2019-09-06

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