Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations

Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction and functional studies are often the only way to classify variants to understand the link...

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Detalles Bibliográficos
Autores principales: Prado, Mayara J., Singh, Shripriya, Ligabue-Braun, Rodrigo, Meneghetti, Bruna V., Rispoli, Thaiane, Kopacek, Cristiane, Monteiro, Karina, Zaha, Arnaldo, Rossetti, Maria L. R., Pandey, Amit V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8745212/
https://www.ncbi.nlm.nih.gov/pubmed/35008721
http://dx.doi.org/10.3390/ijms23010296

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