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Article

Alpha-cardiac actin mutations produce atrial septal defects

18 Oct 2007

Abstract excerpt

Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on the size of the septal shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we identified the gene-encoding alpha-cardiac actin (ACTC1), which is essential for cardiac contraction, as the likely...

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PMID: 17947298
DOI: 10.1093/hmg/ddm302

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