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

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Detalhes bibliográficos
Resumo: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
Autores principais:Oliveira, B.A.
Outros Autores:Correia, C.A.; Conceição, I.C.; Café, C.; Almeida, J.; Mouga, S.; Duque, F.; Oliveira, G.; Vicente, A.M.
Assunto:Perturbações do Desenvolvimento Infantil e Saúde Mental Autism Autism Spectrum Disorders Copy Number Variants ASD CNVs
Ano:2013
País:Portugal
Tipo de documento:documento de conferência
Tipo de acesso:acesso aberto
Instituição associada:Instituto Nacional de Saúde Doutor Ricardo Jorge
Idioma:inglês
Origem:Repositório Científico do Instituto Nacional de Saúde
Descrição
Resumo: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