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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031525/
https://www.ncbi.nlm.nih.gov/pubmed/35455965
http://dx.doi.org/10.3390/cells11081285

Ejemplares similares