A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

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http://www.wikidata.org/entity/Q36927098
Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type IBrugada syndrome with marked conduction disease: dual implications of a SCN5A mutation.Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na currentThe genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunctionPhenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Building a family network from genetic testing.Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical PacingComplex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.
P2860

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

Item
http://www.wikidata.org/entity/Q36927098
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
A common SCN5A polymorphism at ...... ited cardiac conduction defect
@en
type
label
A common SCN5A polymorphism at ...... ited cardiac conduction defect
@en
prefLabel
A common SCN5A polymorphism at ...... ited cardiac conduction defect
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A common SCN5A polymorphism at ...... ited cardiac conduction defect
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932