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Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes

Author(s): Oliveira, B.A. ; Correia, C.A. ; Conceição, I.C. ; Café, C. ; Almeida, J. ; Mouga, S. ; Duque, F. ; Oliveira, G. ; Vicente, A.M.

Date: 2013

Persistent ID: http://hdl.handle.net/10400.18/1640

Origin: Repositório Científico do Instituto Nacional de Saúde

Subject(s): Perturbações do Desenvolvimento Infantil e Saúde Mental; Autism; Autism Spectrum Disorders; Copy Number Variants; ASD; CNVs; Perturbações do Desenvolvimento Infantil e Saúde Mental; Perturbações do Desenvolvimento Infantil e Saúde Mental; Autism; Autism; Autism Spectrum Disorders; Autism Spectrum Disorders; Copy Number Variants; Copy Number Variants; ASD; ASD; CNVs; CNVs

Description

Copy Number Variants (CNVs) play an important role in susceptibility to ASD, often mediated by the deletion or duplication of genes involved in synaptic structure and function. Increasing evidence suggests a central role for defects in synaptic structure and function in the pathogenesis of non-syndromic ASD. In this study we tested the hypothesis of an enrichment in CNVs encompassing synaptic transmission genes in ASD

Document Type Conference object
Language English
Contributor(s) Repositório Científico do Instituto Nacional de Saúde

Document details

Synaptic Transmission: Looking for Clues to Autism Spectrum Disorders (ASD) Etiology in Copy Number Variants Containing Synaptic Genes

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