Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia

Published:2019-07 Issue: Volume:494 Page:64-70
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Zhang Danyan,Dai Limeng,Zhou Zhenhua,Hu Jun,Bai Yun,Guo Hong^ORCID

Funder

National Natural Science Foundation of China

Natural Science Foundation of Chongqing

Fundamental Research Funds of Chongqing Population and Family Planning Science and Technology Research Institute

Foundation of Chongqing Health Commission

Publisher

Elsevier BV

Subject

Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine

Reference24 articles.

1. The genetic nomenclature of recessive cerebellar ataxias;Rossi;Mov. Disord.,2018

2. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability;Kawarai;J. Neurol. Neurosurg. Psychiatry,2016

3. Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and Ataxia;Schmidt;Am. J. Hum. Genet.,2015

4. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome;Thomas;Am. J. Hum. Genet.,2014

5. Xeroderma pigmentosum-Cockayne syndrome complex;Natale;Orphanet J. Rare Dis.,2017

Cited by 8 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. Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability;International Journal of Developmental Neuroscience;2023-10-17

2. Mutation in the β‐tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism;International Journal of Developmental Neuroscience;2023-08-02

3. A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family;Cells;2022-09-30

4. A Novel Splicing Mutation c.335–1 G > A in the Cardiac Transcription Factor NKX2-5 Leads to Familial Atrial Septal Defect Through miR-19 and PYK2;Stem Cell Reviews and Reports;2022-07-02

5. Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants;Aging;2022-06-22

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