Article
A novel mutation in KVLQT1, L122P, found in a family with autosomal dominant long QT syndrome.
American heart journal - 1 Jul 2000
Krahn A D, Wang J, Spindler B, Skanes A C, Yee R, Klein G J, Hegele R A
Abstract excerpt
BACKGROUND: Linkage and mutation analysis in long QT syndrome kindreds has demonstrated locus heterogeneity, with causative mutations reported in at least 5 different genes, including KVLQT1. METHODS AND RESULTS: A 12-year-old male proband with recurrent syncope and a prolonged QT interval underwent clinical assessment and exercise testing along with 3 affected and 3 unaffected family members. The coding regions...
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