Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

Published:2020-12 Issue: Volume:25 Page:100664
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Lee Whiwon,Costain Gregory,Blaser Susan,Walker Susan,Marshall Christian R.,Gonorazky Hernan,Inbar-Feigenberg Michal

Funder

Hospital for Sick Children

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference21 articles.

1. Peroxisomes: Biogenesis, Function, and Role in Human Disease;Shimozawa N. Peroxisomal Disorders,2019

2. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene;Shimozawa;Hum. Mutat.,2004

3. Peroxisome biogenesis disorders;Steinberg;Biochim. Biophys. Acta,2006

4. Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures;Shimozawa;Hum. Mol. Genet.,2000

5. Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes;Nakayama;PLoS One,2011

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. The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear;Cells;2022-10-13

2. Genome-wide association study using haplotype libraries and repeated-measures model to identify candidate genomic regions for stillbirth in Holstein cattle;Journal of Dairy Science;2022-02

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