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

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 α(1A) subunit of the P...

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Udgivet i:Sci Rep
Main Authors: Sintas, Cèlia, Carreño, Oriel, Fernàndez-Castillo, Noèlia, Corominas, Roser, Vila-Pueyo, Marta, Toma, Claudio, Cuenca-León, Ester, Barroeta, Isabel, Roig, Carles, Volpini, Víctor, Macaya, Alfons, Cormand, Bru
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5451382/
https://ncbi.nlm.nih.gov/pubmed/28566750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-02554-x
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