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An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.

Abstract:

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case Control Consortium 2 (WTCCC2) schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls. We found association with duplications at chr20p12.2 (P = 0.007) and ev...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddu025

Authors


Morris, DW More by this author
Pearson, RD More by this author
Cormican, P More by this author
O'Dushlaine, CT More by this author
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Publisher:
Oxford University Press
Journal:
Human molecular genetics
Volume:
23
Issue:
12
Pages:
3316-3326
Publication date:
2014-06-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:3b0e2c6d-197e-48c1-bdf2-842cb3331d47
Source identifiers:
447768
Local pid:
pubs:447768

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