Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing

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 HL...

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Vydáno v:J Hum Genet
Hlavní autoři: 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, Wang, Jingmin
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Singapore 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8310791/
https://ncbi.nlm.nih.gov/pubmed/33597727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-00896-5
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