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CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes

Background: The CACNA1A gene encodes the voltage-dependent P/Q-type calcium channel subunit alpha-1A, which is widely expressed throughout the CNS. The biological roles of the P/Q channel are diverse and the phenotypic spectrum caused by CACNA1A mutations is wide. The aim of this study is to demonst...

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Detalles Bibliográficos
Autores principales: Zhang, Linxia, Wen, Yongxin, Zhang, Qingping, Chen, Yan, Wang, Jiaping, Shi, Kaili, Du, Lijun, Bao, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793878/
https://www.ncbi.nlm.nih.gov/pubmed/33425808
http://dx.doi.org/10.3389/fped.2020.577544