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Functional Study of TMEM163 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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Detalles Bibliográficos
Autores principales:	Yan, Huifang, Yang, Shuyan, Hou, Yiming, Ali, Saima, Escobar, Adrian, Gao, Kai, Duan, Ruoyu, Kubisiak, Thomas, Wang, Junyu, Zhang, Yu, Xiao, Jiangxi, Jiang, Yuwu, Zhang, Ting, Wu, Ye, Burmeister, Margit, Wang, Qiang, Cuajungco, Math P., Wang, Jingmin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031525/ https://www.ncbi.nlm.nih.gov/pubmed/35455965 http://dx.doi.org/10.3390/cells11081285

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