Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2

Episodic ataxia (EA) syndromes are heritable diseases characterized by dramatic episodes of imbalance and incoordination. EA type 2 (EA2), the most common and the best characterized subtype, is caused by mostly nonsense, splice site, small indel, and sometimes missense mutations in CACNA1A. Direct s...

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Detalhes bibliográficos
Main Authors: Wan, Jijun, Mamsa, Hafsa, Johnston, Janine L., Spriggs, Elizabeth L., Singer, Harvey S., Zee, David S., Al-Bayati, Alhamza R., Baloh, Robert W., Jen, Joanna C.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Research Foundation 2011
Assuntos:
Neuroscience
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3169784/
https://ncbi.nlm.nih.gov/pubmed/21927611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2011.00051
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