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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Abstract:

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering. Protein-altering mutations were significantly enriched for changes at highly conserved ...

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Publisher copy:
10.1038/ng.835

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Journal:
Nature Genetics
Volume:
43
Issue:
6
Pages:
585-589
Publication date:
2011-06-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:f149560a-1041-4110-aaec-c7d3db50f11e
Source identifiers:
162118
Local pid:
pubs:162118
Language:
English

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