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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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Dettagli Bibliografici
Autori principali: Breitenkamp, Alexandra F. S., Matthes, Jan, Nass, Robert Daniel, Sinzig, Judith, Lehmkuhl, Gerd, Nürnberg, Peter, Herzig, Stefan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Accesso online: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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