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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterised by prolongation of the QT interval on ECG, presence of syncope and sudden death. The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectru...

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Detalles Bibliográficos
Autores principales: Stattin, Eva-Lena, Boström, Ida Maria, Winbo, Annika, Cederquist, Kristina, Jonasson, Jenni, Jonsson, Björn-Anders, Diamant, Ulla-Britt, Jensen, Steen M, Rydberg, Annika, Norberg, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520728/
https://www.ncbi.nlm.nih.gov/pubmed/23098067
http://dx.doi.org/10.1186/1471-2261-12-95