Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA...

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Detalles Bibliográficos
Autores principales: Hu, Yafang, Jiang, Haishan, Wang, Qun, Xie, Zuoshan, Pan, Suyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575407/
https://www.ncbi.nlm.nih.gov/pubmed/23441182
http://dx.doi.org/10.1371/journal.pone.0056362

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575407/
https://www.ncbi.nlm.nih.gov/pubmed/23441182
http://dx.doi.org/10.1371/journal.pone.0056362

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