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Article

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

Annals of medicine - 1 Jan 2006

Fodstad Heidi, Bendahhou Saïd, Rougier Jean-Sébastien, Laitinen-Forsblom Päivi J, Barhanin Jacques, Abriel Hugues, Schild Laurent, Kontula Kimmo, Swan Heikki

Abstract excerpt

BACKGROUND: Mutations of at least six different genes have been found to cause long QT syndrome (LQTS), an inherited arrhythmic disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), ventricular arrhythmias and risk of sudden death. AIM: The aims were to define the yet undetermined phenotypic characteristics of two founder mutations and to study clinical features in compound...

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PMID: 16754261
DOI: 10.1080/07853890600756065

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KCNQ1

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Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.PMID 16754261Read ↗

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