SCN5A Rare Variants in Familial Dilated Cardiomyopathy Decrease Peak Sodium Current Depending on the Common Polymorphism H558R and Common Splice Variant Q1077del

Obtaining functional data with newly identified rare variants increases certainty that the variant identified is relevant for dilated cardiomyopathy (DCM) causation. Two novel SCN5A rare variants, R222Q and I1835T, segregated with DCM in two families with affected individuals homozygous or heterozyg...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Cheng, Jianding, Morales, Ana, Siegfried, Jill D., Li, Duanxiang, Norton, Nadine, Song, Junyao, Gonzalez‐Quintana, Jorge, Makielski, Jonathan C., Hershberger, Ray E.
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Inc 2010
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3026282/
https://ncbi.nlm.nih.gov/pubmed/21167004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1752-8062.2010.00249.x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados