Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency
Open Access
- 1 February 2012
- journal article
- Published by Oxford University Press (OUP) in Clinical Chemistry
- Vol. 58 (2), 421-430
- https://doi.org/10.1373/clinchem.2011.174037
Abstract
BACKGROUND. Chimeric CYP21A1P/CYP21A2 genes, caused by homologous recombination between CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2)Keywords
Funding Information
- National Institute on Aging
- Eunice Kennedy Shriver National Institute of Child Health and Human Development
- National Institutes of Health
This publication has 36 references indexed in Scilit:
- Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase DeficiencyJournal of Clinical Endocrinology & Metabolism, 2011
- Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiencyBMC Medical Genetics, 2010
- A new CYP21A1P/CYP21A2chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia formBMC Medical Genetics, 2009
- Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase DeficiencyJournal of Clinical Endocrinology & Metabolism, 2009
- Human Complement Components C4A and C4B Genetic Diversities: Complex Genotypes and PhenotypesCurrent Protocols in Immunology, 2005
- The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiencyJournal of Human Genetics, 2004
- Modular Variations of the Human Major Histocompatibility Complex Class III Genes for Serine/Threonine Kinase RP, Complement Component C4, Steroid 21-Hydroxylase CYP21, and Tenascin TNX (the RCCX Module)Published by Elsevier BV ,1999
- Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.JCI Insight, 1992
- Identification of Molecular Defects Causing Congenital Adrenal Hyperplasia by Cloning and Differential Hybridization of Polymerase Chain Reaction-Amplified 21-Hydroxylase (CYP21) GenesDNA and Cell Biology, 1992
- Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogeneThe Journal of Steroid Biochemistry and Molecular Biology, 1991