Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations

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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Bibliographic Details
Main Authors: Mayara J. Prado, Shripriya Singh, Rodrigo Ligabue-Braun, Bruna V. Meneghetti, Thaiane Rispoli, Cristiane Kopacek, Karina Monteiro, Arnaldo Zaha, Maria L. R. Rossetti, Amit V. Pandey
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:International Journal of Molecular Sciences
Subjects:
21-hydroxylase deficiency
congenital adrenal hyperplasia
CYP21A2
functional characterization
Online Access:https://www.mdpi.com/1422-0067/23/1/296

Internet

https://www.mdpi.com/1422-0067/23/1/296

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