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...

Celý popis

Podrobná bibliografie

Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2022-04-01
Edice:	Cells
Témata:	TMEM163 protein hypomyelination leukodystrophy zinc efflux transporter
On-line přístup:	https://www.mdpi.com/2073-4409/11/8/1285
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!