Loading...

A nonsense SCN5A mutation associated with Brugada type ECG and intraventricular conduction defects

Mutations of SCN5A, gene encoding α-subunit of cardiac sodium channel, can cause mixed phenotypes of Brugada syndrome (BrS) and cardiac conduction diseases (CCD). We have identified a nucleotide change of SCN5A (4178T>G) which results in a nonsense mutation, L1393X, in a 36 year-old Caucasian man...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Samani, Kaveh, Ai, Tomohiko, Towbin, Jeffrey A., Brugada, Ramon, Shuraih, Mossaab, Xi, Yutao, Wu, Geru, Cheng, Jie, Vatta, Matteo
Format: Artigo
Sprog:Inglês
Udgivet: 2009
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2747666/
https://ncbi.nlm.nih.gov/pubmed/19719504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1540-8159.2009.02470.x
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!