Article
Exome sequencing supports a de novo mutational paradigm for schizophrenia.
Nature genetics - 7 Aug 2011
Xu Bin, Roos J Louw, Dexheimer Phillip, Boone Braden, Plummer Brooks, Levy Shawn, Gogos Joseph A, Karayiorgou Maria
Abstract excerpt
Despite its high heritability, a large fraction of individuals with schizophrenia do not have a family history of the disease (sporadic cases). Here we examined the possibility that rare de novo protein-altering mutations contribute to the genetic component of schizophrenia by sequencing the exomes of 53 sporadic cases, 22 unaffected controls and their parents. We identified 40 de novo mutations in 27 cases...
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