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Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90–95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two plausible CYP21A2 structures as templates, we ini...

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Detalles Bibliográficos
Autores principales:	Bruque, Carlos D., Delea, Marisol, Fernández, Cecilia S., Orza, Juan V., Taboas, Melisa, Buzzalino, Noemí, Espeche, Lucía D., Solari, Andrea, Luccerini, Verónica, Alba, Liliana, Nadra, Alejandro D., Dain, Liliana
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155424/ https://www.ncbi.nlm.nih.gov/pubmed/27966633 http://dx.doi.org/10.1038/srep39082

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