An Overview of Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency
- 31 May 2001
- journal article
- review article
- Published by Elsevier in The Journal of Molecular Diagnostics
- Vol. 3 (2) , 49-54
- https://doi.org/10.1016/s1525-1578(10)60651-4
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Congenital Adrenal Hyperplasia due to 21-Hydroxylase DeficiencyEndocrine Reviews, 2000
- Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Journal of Medical Genetics, 1998
- Analysis of four common salt-wasting mutations in CYP21 (steroid 21-hydroxylase) by cleavase fragment length polymorphism analysis and characterization of a frequent polymorphism in intron 6Molecular Diagnosis, 1998
- The importance of heteroduplexes in interpreting the results of PCR-RED diagnostic assays: Application to the analysis of mutations in the steroid 21-hydroxylase gene in a case of congenital adrenal hyperplasiaMolecular Diagnosis, 1998
- Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.Journal of Medical Genetics, 1997
- Structure and expression of the CYP21 (P450c21, steroid 21-hydroxylase) gene with respect to its deficiencyEndocrine Research, 1995
- Molecular Diagnosis of 21-Hydroxylase Deficiency: Detection of Four Mutations on a Single GelBiochemical Medicine and Metabolic Biology, 1994
- Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probeAmerican Journal of Medical Genetics, 1988
- PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIAThe Lancet, 1987
- PRENATAL DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY) BY HLA TYPINGThe Lancet, 1979