NKX2-5 Mutations in an Inbred Consanguineous Population: Genetic and Phenotypic Diversity

NKX2-5 mutations are associated with different forms of congenital heart disease. Despite the knowledge gained from molecular and animal studies, genotype-phenotype correlations in humans are limited by the lack of large cohorts and the incomplete assessment of family members. We hypothesized that s...

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Detalles Bibliográficos
Autores principales: Abou Hassan, Ossama K., Fahed, Akl C., Batrawi, Manal, Arabi, Mariam, Refaat, Marwan M., DePalma, Steven R., Seidman, J. G., Seidman, Christine E., Bitar, Fadi F., Nemer, Georges M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351524/
https://www.ncbi.nlm.nih.gov/pubmed/25742962
http://dx.doi.org/10.1038/srep08848

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