Article
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
PloS one - 11 Jan 2011
Minutolo Carolina, Nadra Alejandro D, Fernández Cecilia, Taboas Melisa, Buzzalino Noemí, Casali Bárbara, Belli Susana, Charreau Eduardo H, Alba Liliana, Dain Liliana
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nucleotide sequence identity CYP21A1P pseudogene, on chromosome 6p21.3. Even though most patients carry CYP21A1P-derived mutations, an increasing number of novel and...
Topics
- Adrenal Hyperplasia, Congenital
- Algorithms
- Argentina
- Case-Control Studies
- Genetic Predisposition to Disease
- Humans
- Models, Molecular
- Mutation
- Protein Stability
- Steroid 21-Hydroxylase