Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

Although genetic variations in several genes encoding for synaptic adhesion proteins have been found to be associated with autism spectrum disorders, one of the most consistently replicated genes has been CNTNAP2, encoding for contactin-associated protein-like 2 (CASPR2), a multidomain transmembrane...

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Bibliografische gegevens
Hoofdauteurs: Falivelli, Giulia, De Jaco, Antonella, Favaloro, Flores Lietta, Kim, Hyuck, Wilson, Jennifer, Dubi, Noga, Ellisman, Mark H., Abrahams, Brett S., Taylor, Palmer, Comoletti, Davide
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2012
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Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3471401/
https://ncbi.nlm.nih.gov/pubmed/22872700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds320
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