Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation

Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation

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http://www.wikidata.org/entity/Q33161026
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromesArrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.A Common Polymorphism of the Human Cardiac Sodium Channel Alpha Subunit (SCN5A) Gene Is Associated with Sudden Cardiac Death in Chronic Ischemic Heart Disease.The cardiomyocyte molecular clock, regulation of Scn5a, and arrhythmia susceptibility.Cardiac sodium channel mutations: why so many phenotypes?Variants in the SCN5A Promoter Associated With Various Arrhythmia PhenotypesGenotype- and phenotype-guided management of congenital long QT syndrome.Identifying potential functional impact of mutations and polymorphisms: linking heart failure, increased risk of arrhythmias and sudden cardiac deathBrugada syndrome: clinical and genetic findings.Cis-regulatory evolution in a wild primate: Infection-associated genetic variation drives differential expression of MHC-DQA1 in vitro.H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.Increased promoter activity as a mechanism in atypical normokalemic periodic paralysis
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Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation

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http://www.wikidata.org/entity/Q33161026
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2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Genetic variants in SCN5A prom ...... gous loss-of-function mutation
@ast
Genetic variants in SCN5A prom ...... gous loss-of-function mutation
@en
type
label
Genetic variants in SCN5A prom ...... gous loss-of-function mutation
@ast
Genetic variants in SCN5A prom ...... gous loss-of-function mutation
@en
prefLabel
Genetic variants in SCN5A prom ...... gous loss-of-function mutation
@ast
Genetic variants in SCN5A prom ...... gous loss-of-function mutation
@en
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Genetic variants in SCN5A prom ...... gous loss-of-function mutation
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P2860
P304
P31
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10.1016/J.HRTHM.2012.02.023
P433
P478
P50
P577
P5875
P698
P921
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