Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

BACKGROUND: The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide. In Sweden p.R518X accounts for the majority of JLNS cases and is the second most common cause of LQTS. Here we investigat...

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Detalles Bibliográficos
Autores principales: Winbo, Annika, Stattin, Eva-Lena, Nordin, Charlotte, Diamant, Ulla-Britt, Persson, Johan, Jensen, Steen M, Rydberg, Annika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942207/
https://www.ncbi.nlm.nih.gov/pubmed/24552659
http://dx.doi.org/10.1186/1471-2261-14-22

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