Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
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Diseases caused by mutations in Nav1.5 interacting proteinsArrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation.The Cardiac Sodium Channel and Its Protein Partners.Mexiletine rescues a mixed biophysical phenotype of the cardiac sodium channel arising from the SCN5A mutation, N406K, found in LQT3 patients
P2860
Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@ast
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@en
type
label
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@ast
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@en
prefLabel
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@ast
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@en
P2093
P2860
P1476
Digenic inheritance novel muta ...... contributing to LQT syndrome.
@en
P2093
Amber Peterson
Bi-Hua Tan
Carmen R Valdivia
Jonathan C Makielski
Kate M Orland
P2860
P304
H994-H1001
P356
10.1152/AJPHEART.00705.2012
P577
2013-02-01T00:00:00Z