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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Pubblicato in:Sci Rep
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351524/
https://ncbi.nlm.nih.gov/pubmed/25742962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep08848
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