Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

BACKGROUND: Autism spectrum disorder (ASD) is reported in 30 to 60% of patients with tuberous sclerosis complex (TSC) but shared genetic mechanisms that exist between TSC-associated ASD and idiopathic ASD have yet to be determined. Through the small G-protein Rheb, the TSC proteins, hamartin and tub...

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Detalles Bibliográficos
Autores principales: Bahl, Samira, Chiang, Colby, Beauchamp, Roberta L, Neale, Benjamin M, Daly, Mark J, Gusella, James F, Talkowski, Michael E, Ramesh, Vijaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610211/
https://www.ncbi.nlm.nih.gov/pubmed/23514105
http://dx.doi.org/10.1186/2040-2392-4-5

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