Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing

Published:2021-11 Issue:11 Volume:23 Page:1491-1499
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

Yang Ye,Zhang Jing^ORCID,Li Li-Ting^ORCID,Qiu Yi-Ling,Gong Jing-Yu,Zhang Mei-Hong,Li Cai-Hua,Wang Jian-She^ORCID

Funder

National Natural Science Foundation of China

Fudan University

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference39 articles.

1. P4-ATPases as phospholipid flippases – structure, function, and enigmas;Andersen;Front Physiol,2016

2. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis;Bull;Nat Genet,1998

3. Recurrent familial intrahepatic cholestasis in the Faeroe Islands: phenotypic heterogeneity but genetic homogeneity;Tygstrup;Hepatology,1999

4. A missense mutation in FIC1 is associated with Greenland familial cholestasis;Klomp;Hepatology,2000

5. Characterization of mutations in ATP8B1 associated with hereditary cholestasis;Klomp;Hepatology,2004

Cited by 2 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. COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient;Human Mutation;2024-02-12

2. Splicing Analysis of MYO5B Noncanonical Variants in Patients with Low Gamma-Glutamyltransferase Cholestasis;Human Mutation;2023-07-27

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