Article
Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.
International journal of molecular sciences - 28 Dec 2021
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
Abstract excerpt
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 l...
Topics
- Adolescent
- Amino Acid Sequence
- Brazil
- Child, Preschool
- Computer Simulation
- Conserved Sequence
- Female
- Genetics, Population
- Humans
- Infant
- Kinetics
- Male
- Models, Molecular
- Mutant Proteins
- Mutation