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

BACKGROUND: Heterozygous SCN5A mutations have been associated with varied arrhythmia phenotypes; phenotype severity may range from asymptomatic ECG changes (mild phenotype) to symptomatic arrhythmias resulting in syncope, cardiac arrest and sudden cardiac death (severe phenotype) even among family m...

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Bibliografiska uppgifter
Huvudupphovsmän: Park, Ji Kwon, Martin, Lisa J., Zhang, Xue, Jegga, Anil G., Benson, D. Woodrow
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
Ämnen:
Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3375373/
https://ncbi.nlm.nih.gov/pubmed/22370247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.hrthm.2012.02.023
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