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Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders

Abstract:

Copy number variants (CNVs) are thought to underlie many human developmental abnormalities. However, it is unclear how many of these CNVs exert their pathogenic effects or, in particular, how distinct CNVs at dispersed loci can give rise to the same abnormality. We hypothesize that the mouse orthologs of genes whose copy number change gives rise to the same human abnormality might also yield a similar phenotype when disrupted in mice. Thus, by bringing together a large number of disparate CNV...

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Publisher copy:
10.1002/humu.22069

Authors


Boulding, H More by this author
Journal:
Human Mutation
Volume:
33
Issue:
5
Pages:
874-883
Publication date:
2012-05-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:7ab08590-bb0a-4f8f-98e5-8ec9dbc9b3f1
Source identifiers:
349061
Local pid:
pubs:349061

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