Journal article
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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Authors
Bibliographic Details
- Journal:
- Nature Genetics
- Volume:
- 43
- Issue:
- 6
- Pages:
- 585-589
- Publication date:
- 2011-06-01
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- Source identifiers:
-
162118
Item Description
- Language:
- English
- Pubs id:
-
pubs:162118
- UUID:
-
uuid:f149560a-1041-4110-aaec-c7d3db50f11e
- Local pid:
- pubs:162118
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2011
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