Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants ofCOH1

Published:2008-11-12 Issue:2 Volume:30 Page:E404-E420
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Seifert Wenke,Holder-Espinasse Muriel,Kühnisch Jirko,Kahrizi Kimia,Tzschach Andreas,Garshasbi Masoud,Najmabadi Hossein,Walter Kuss Andreas,Kress Wolfram,Laureys Geneviève,Loeys Bart,Brilstra Eva,Mancini Grazia M.S.,Dollfus Hélène,Dahan Karin,Apse Kira,Christian Hennies Hans,Horn Denise

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 44 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. Sec23IP recruits the Cohen syndrome factor VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation;2024-02-29

2. Cohen syndrome due to a novel stop-gain mutation in VPS13B gene: A case report and comparative study in affected siblings worldwide;2024-02-21

3. Pharmacological interventions for lipid transport disorders;Frontiers in Neuroscience;2023-12-14

4. Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB;neurogenetics;2023-02-13

5. In silico modelling human VPS13 proteins associated with donor and target membranes suggests lipid transfer mechanisms;2022-07-29

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