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CNVs leading to fusion transcripts in individuals with autism spectrum disorder

Holt, R; Sykes, NH; Conceição, IC; Cazier, JB; Anney, RJ; Oliveira, G; Gallagher, L; Monaco, AP; Pagnamenta, AT

There is strong evidence that rare copy number variants (CNVs) have a role in susceptibility to autism spectrum disorders (ASDs). Much research has focused on how CNVs mediate a phenotypic effect by altering gene expression levels. We investigated an alternative mechanism whereby CNVs combine the 5' and 3' ends of two genes, creating a 'fusion gene'. Any resulting mRNA with an open reading frame could potential...

Date: 2012   |   Origin: Repositório do Centro Hospitalar e Universitário de Coimbra
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