Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy

Background: Mutations in the cardiac sodium channel, SCN5A, have been associated with one type of long-QT syndrome, with isolated cardiac conduction defects and Brugada syndrome. The sodium channelopathies exhibit marked variation in clinical phenotypes. The mechanisms underlying the phenotypical di...

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Hlavní autoři: Rossenbacker, T, Schollen, E, Kuiperi, C, de Ravel, T J L, Devriendt, K, Matthijs, G, Collen, D, Heidbuchel, H, Carmeliet, P
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2005
Témata:
Online Mutation Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736064/
https://ncbi.nlm.nih.gov/pubmed/15863661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.029058
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