Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

Mechanically activated (MA) ion channels convert physical forces into electrical signals. Despite the importance of this function, the involvement of mechanosensitive ion channels in human disease is poorly understood. Here we report heterozygous missense mutations in the gene encoding the MA ion ch...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Yan, Huifang, Helman, Guy, Murthy, Swetha E., Ji, Haoran, Crawford, Joanna, Kubisiak, Thomas, Bent, Stephen J., Xiao, Jiangxi, Taft, Ryan J., Coombs, Adam, Wu, Ye, Pop, Ana, Li, Dongxiao, de Vries, Linda S., Jiang, Yuwu, Salomons, Gajja S., van der Knaap, Marjo S., Patapoutian, Ardem, Simons, Cas, Burmeister, Margit, Wang, Jingmin, Wolf, Nicole I.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6848986/
https://ncbi.nlm.nih.gov/pubmed/31587869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.011
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