Associated Papers
A Novel Nonsense Mutation c.374C>G in CYP21A2 Gene of a Vietnamese Patient with Congenital Adrenal Hyperplasia.
Vu CD et al.
Advances in Experimental Medicine and Biology, 2020
Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach.
Livadas S et al.
Frontiers in Endocrinology, 2019
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
Concolino P et al.
Molecular Diagnosis & Therapy, 2018
Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
Khajuria R et al.
Biochimie, 2018
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
Carmina E et al.
Human Reproduction Update, 2017
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Bruque CD et al.
Scientific Reports, 2016
27966633 (PubMed )
Supplement: srep39082-s1.pdf
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Pallan PS et al.
Molecular Endocrinology (baltimore, Md.), 2015
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.
Haider S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Riepe FG et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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