Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequen...
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
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Author / Creator
Yan, Huifang , Ji, Haoran , Kubisiak, Thomas , Wu, Ye , Xiao, Jiangxi , Gu, Qiang , Yang, Yanling , Xie, Han , Ji, Taoyun , Gao, Kai , Li, Dongxiao , Xiong, Hui , Shi, Zhen , Li, Ming , Zhang, Yuehua , Duan, Ruoyu , Bao, Xinhua , Jiang, Yuwu , Burmeister, Margit and Wang, Jingmin
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Hypomyelinating leukodystrophies (HLDs) are a rare group of disorders characterized by myelin deficit of the brain-based on MRI. Here, we studied 20 patients with unexplained HLD to uncover their genetic etiology through whole-exome sequencing (WES). Trio-based WES was performed for 20 unresolved HLDs families after genetic tests for the PLP1 dupli...
Alternative Titles
Full title
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8310791
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8310791
Other Identifiers
ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-00896-5
