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...

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Autores principales: 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
Lenguaje:Inglês
Publicado: 2010
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Article
Acceso en línea: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
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