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Journal article

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

Abstract:

BACKGROUND: Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. METHODS AND RESULTS: Two hundred and seven haplotype-tagging single nucleotide polymorphisms in 22 candidate genes were genotyped in a test cohort comprising 362 nonsyndromic British white patients with TOF together...

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Publication status:
Published

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Authors


Goodship, JA More by this author
Mamasoula, C More by this author
Griffin, H More by this author
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Journal:
Circulation. Cardiovascular genetics
Volume:
5
Issue:
3
Pages:
287-292
Publication date:
2012-06-05
DOI:
EISSN:
1942-3268
ISSN:
1942-325X
URN:
uuid:8268d288-fdae-469b-80ca-bf2379ae7ef4
Source identifiers:
325173
Local pid:
pubs:325173

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