Caricamento...

Patient with Syncope and LQTS Carrying a Mutation in the PAS Domain of the hERG1 Channel

We report the case of a woman with syncope and persistently prolonged QTc interval. Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C. Electrophysiological and biochemical characterizations unveiled the pathogenicity...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Ann Noninvasive Electrocardiol
Autori principali: Grilo, Liliana Sintra, Schläpfer, Jürg, Fellmann, Florence, Abriel, Hugues
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Inc 2011
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6932128/
https://ncbi.nlm.nih.gov/pubmed/21496174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1542-474X.2011.00419.x
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !