Functional Characterization of a Novel Mutation in NKX2-5 Associated with Congenital Heart Disease and Adult-Onset Cardiomyopathy

BACKGROUND: The transcription factor NKX2-5 is crucial for heart development and mutations in this gene have been implicated in diverse congenital heart diseases (CHD) and conduction defects (CD) in mouse models and humans. Whether NKX2-5 mutations have a role in adult-onset heart disease is unknown...

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Main Authors: Costa, Mauro W., Guo, Guanglan, Wolstein, Orit, Vale, Molly, Castro, M. Leticia, Wang, Libin, Otway, Robyn, Riek, Peter, Cochrane, Natalie, Furtado, Milena, Semsarian, Christopher, Weintraub, Robert G., Yeoh, Thomas, Hayward, Christopher, Keogh, Anne, Macdonald, Peter, Feneley, Michael, Graham, Robert M., Seidman, Jonathan G., Seidman, Christine E., Rosenthal, Nadia, Fatkin, Diane, Harvey, Richard P.
Format: Artigo
Language:Inglês
Published: 2013
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3816146/
https://ncbi.nlm.nih.gov/pubmed/23661673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.113.000057
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