Functional Study of <i>TMEM163</i> Gene Variants Associated with Hypomyelination Leukodystrophy

Functional Study of <i>TMEM163</i> Gene Variants Associated with Hypomyelination Leukodystrophy

Hypomyelinating leukodystrophies (HLDs) are a rare group of heterogeneously genetic disorders characterized by persistent deficit of myelin observed on magnetic resonance imaging (MRI). To identify a new disease-associated gene of HLD, trio-based whole exome sequencing was performed for unexplained...

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Bibliographic Details
Main Authors: Huifang Yan, Shuyan Yang, Yiming Hou, Saima Ali, Adrian Escobar, Kai Gao, Ruoyu Duan, Thomas Kubisiak, Junyu Wang, Yu Zhang, Jiangxi Xiao, Yuwu Jiang, Ting Zhang, Ye Wu, Margit Burmeister, Qiang Wang, Math P. Cuajungco, Jingmin Wang
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Cells
Subjects:
TMEM163 protein
hypomyelination leukodystrophy
zinc efflux transporter
Online Access:https://www.mdpi.com/2073-4409/11/8/1285

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https://www.mdpi.com/2073-4409/11/8/1285

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