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The mutation spectrum and ethnic distribution of Wilson disease, a review.威尔逊病的突变谱与种族分布综述
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本文引用的文献

1
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.WilsonGen：一个全面的临床注释的威尔逊病基因组变异资源。
Sci Rep. 2020 Jun 3;10(1):9037. doi: 10.1038/s41598-020-66099-2.
2
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.对 102 个印度南部 Wilson 病家系的 ATP7B 进行基因分析。
PLoS One. 2019 May 6;14(5):e0215779. doi: 10.1371/journal.pone.0215779. eCollection 2019.
3
Wilson's Disease: Clinical Practice Guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India.威尔逊氏病：印度肝脏研究全国协会、印度小儿胃肠病学、肝病学与营养学会以及印度运动障碍学会临床实践指南
J Clin Exp Hepatol. 2019 Jan-Feb;9(1):74-98. doi: 10.1016/j.jceh.2018.08.009. Epub 2018 Sep 3.
4
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.从一组 Wilson 病患者中鉴定 ATP7B 基因突变谱及新突变：功能和治疗意义。
Hum Mutat. 2018 Dec;39(12):1926-1941. doi: 10.1002/humu.23614. Epub 2018 Sep 16.
5
Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson's Disease.新一代测序技术在威尔逊病诊断中的临床应用
Gastroenterol Res Pract. 2016;2016:4548039. doi: 10.1155/2016/4548039. Epub 2015 Dec 24.
6
Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.印度青年发病型成年糖尿病——通过靶向二代测序确定的独特突变模式
Clin Endocrinol (Oxf). 2015 Apr;82(4):533-42. doi: 10.1111/cen.12541. Epub 2014 Aug 7.
7
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.来自印度西部的威尔逊氏病突变模式及其基因型与表型的相关性：确认p.C271*为常见的印度突变并鉴定出14种新突变。
Ann Hum Genet. 2013 Jul;77(4):299-307. doi: 10.1111/ahg.12024. Epub 2013 Apr 2.
8
Genetics of Wilson's disease: a clinical perspective.威尔逊氏病的遗传学：临床视角
Indian J Gastroenterol. 2012 Dec;31(6):285-93. doi: 10.1007/s12664-012-0237-6. Epub 2012 Sep 1.
9
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.印度南部主要威尔逊病患者队列中家庭的ATP7B突变
Indian J Gastroenterol. 2006 Nov-Dec;25(6):277-82.
10
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.肝豆状核变性的分子发病机制：印度患者的单倍型分析、常见突变检测及基因型-表型相关性研究
Hum Genet. 2005 Oct;118(1):49-57. doi: 10.1007/s00439-005-0007-y. Epub 2005 Oct 28.

Multiplex PCR-based Sequencing of Gene in Wilson's Disease - A Preliminary Study.

作者信息

Aaron Rekha, Chapla Aaron, Danda Sumita, Zachariah Uday, Eapen Chundamannil E, Goel Ashish

机构信息

Department of Hepatology, Christian Medical College Vellore, Tamil Nadu, India.

Department of Endocrinology, Christian Medical College Vellore, Tamil Nadu, India.

出版信息

J Clin Exp Hepatol. 2022 Mar-Apr;12(2):711-713. doi: 10.1016/j.jceh.2021.08.001. Epub 2021 Aug 6.

DOI:10.1016/j.jceh.2021.08.001
PMID:35535059
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9077194/
Abstract
摘要