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Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease

3 May 2004

Abstract excerpt

Congenital heart disease (CHD), comprising structural or functional abnormalities present at birth, is the most common birth defect in humans. Reduced expression of connexin40 (Cx40) has been found in association with atrial fibrillation, and deletion of Cx40 in a mouse model causes various structural heart abnormalities in 18% of heterozygotes. We screened 505 unrelated CHD cases for deletions or duplications of...

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PMID: 15117819
DOI: 10.1161/01.res.0000130528.72330.5c

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Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart DiseasePMID 15117819Read ↗

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