Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases clinically defined by dysfunction of social interaction. Dysregulation of cellular calcium homeostasis might be involved in ASD pathogenesis, and genes coding for the L-type calcium channel subunits Ca(V)1.2 (CACNA1C) and Ca(V)β...

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Detalhes bibliográficos
Main Authors: Breitenkamp, Alexandra F. S., Matthes, Jan, Nass, Robert Daniel, Sinzig, Judith, Lehmkuhl, Gerd, Nürnberg, Peter, Herzig, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3994086/
https://ncbi.nlm.nih.gov/pubmed/24752249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0095579
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