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...

Descripción completa

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

Internet

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

Ejemplares similares