Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

Abstract Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. The disease is genetically heterogeneous and is classified as episodic ataxia type 2 (EA2) when it is caused by a mutation in the CACNA1A gene, encoding the α1A subunit o...

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Autores principales: Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Claudio Toma, Ester Cuenca-León, Isabel Barroeta, Carles Roig, Víctor Volpini, Alfons Macaya, Bru Cormand
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
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Science
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Acceso en línea:https://doaj.org/article/9317232c8b7c4a298032aaa4add4d283
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https://doaj.org/article/9317232c8b7c4a298032aaa4add4d283

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