Nebulette Mutations are Associated with Dilated Cardiomyopathy and Endocardial Fibroelastosis

OBJECTIVES: Four variants (K60N, Q128R, G202R and A592E) in the nebulette gene (NEBL) were identified in patients with dilated cardiomyopathy (DCM) and endocardial fibroelastosis (EFE). We sought to determine if these mutations cause cardiomyopathy. BACKGROUND: Nebulette aligns thin filaments and co...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Purevjav, Enkhsaikhan, Varela, Jaquelin, Morgado, Micaela, Kearney, Debra L., Li, Hua, Taylor, Michael D., Arimura, Takuro, Moncman, Carole L., McKenna, William, Murphy, Ross T., Labeit, Siegfried, Vatta, Matteo, Bowles, Neil E., Kimura, Akinori, Boriek, Aladin M., Towbin, Jeffrey A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2957670/
https://ncbi.nlm.nih.gov/pubmed/20951326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacc.2010.05.045
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados