Article
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
Scandinavian journal of clinical and laboratory investigation - 1 Jan 2008
Berge K E, Haugaa K H, Früh A, Anfinsen O-G, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum T O, Hallerud M, Kongsgård E, Amlie J P, Leren T P
Abstract excerpt
Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome. We have performed DNA sequencing of the LQTS-associated genes in 169 unrelated patients referred for genetic testing with respect to Romano Ward syndrome and in 13 unrelated patients referred for genetic testing with respect to...
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