Associated Papers
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.
Baumgartner-Parzer S et al.
European Journal of Human Genetics : Ejhg, 2020
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia.
Chi DV et al.
Molecular Genetics & Genomic Medicine, 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
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
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
Toraman B et al.
Gene, 2013
Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
Kleinle S et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.
Robins T et al.
Molecular Endocrinology (baltimore, Md.), 2006
Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
Usui T et al.
Hormone Research, 2004
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
Stikkelbroeck NM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.
Billerbeck AE et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
Jiddou RR et al.
Clinical Chemistry, 1999
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