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

Autor: Cecilia Fernández, Carlos David Bruque, Melisa Taboas, Juan Victoriano Orza, Alejandro D. Nadra, Marisol Delea, Liliana Alba, Liliana Dain, Andrea Solari, Veronica Luccerini, Lucía D. Espeche, Noemí Buzzalino

Publikováno v: Scientific Reports
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa88da5138f051dfbbe1339337674028