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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Detalles Bibliográficos
Autores principales: Breitenkamp, Alexandra F. S., Matthes, Jan, Nass, Robert Daniel, Sinzig, Judith, Lehmkuhl, Gerd, Nürnberg, Peter, Herzig, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994086/
https://www.ncbi.nlm.nih.gov/pubmed/24752249
http://dx.doi.org/10.1371/journal.pone.0095579

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3994086/
https://www.ncbi.nlm.nih.gov/pubmed/24752249
http://dx.doi.org/10.1371/journal.pone.0095579

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