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ORIGINAL ARTICLE: Brief Report: Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation
Miércoles, 09 Julio, 2008 - 06:55 - 6 meses hace - Presse spécialisée - New England Journal of Medicin
In a family with hereditary atrial fibrillation, linkage analysis and candidate-gene sequencing identified a frameshift mutation in the atrial natriuretic peptide gene. This mutation segregated with atrial fibrillation in the family and generated a fusion protein that was detected by radioimmunoassay in the plasma of affected family members. The mutant protein caused shortening of the atrial monophasic action potential and the effective refractory period in isolated perfused hearts.
