Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2

BACKGROUND: Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The...

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Detalles Bibliográficos
Autores principales: Christiansen, Michael, Hedley, Paula L, Theilade, Juliane, Stoevring, Birgitte, Leren, Trond P, Eschen, Ole, Sørensen, Karina M, Tybjærg-Hansen, Anne, Ousager, Lilian B, Pedersen, Lisbeth N, Frikke-Schmidt, Ruth, Aidt, Frederik H, Hansen, Michael G, Hansen, Jim, Bloch Thomsen, Poul E, Toft, Egon, Henriksen, Finn L, Bundgaard, Henning, Jensen, Henrik K, Kanters, Jørgen K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4007532/
https://www.ncbi.nlm.nih.gov/pubmed/24606995
http://dx.doi.org/10.1186/1471-2350-15-31

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