Article
Investigation of ion channel gene variants in patients with long QT syndrome.
Arquivos brasileiros de cardiologia - 1 Mar 2011
Ernesto Curty, Cruz Fernando Eugênio dos Santos, Lima Fabiane Santos, Coutinho Jorge Luiz Albuquerque, Silva Rosane, Urményi Turán Peter, Carvalho Antônio Carlos Campos, Rondinelli Edson
Abstract excerpt
BACKGROUND: The long QT syndrome (LQTS) is an inherited arrhythmia syndrome with increased QT interval and risk of sudden death. Mutations in genes KCNQ1, KCNH2 and SCN5A account for 90% of cases with genotype determined, and genotyping is informative for genetic counseling and better disease management. OBJECTIVE: Molecular investigation and computational analysis of gene variants of KCNQ1, KCNH2 and SCN5A...
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