Genotype‐phenotype analysis in late onset 21‐hydroxylase deficiency in comparison to the classical forms
- 1 June 1998
- journal article
- research article
- Published by Wiley in Clinical Endocrinology
- Vol. 48 (6) , 707-711
- https://doi.org/10.1046/j.1365-2265.1998.00402.x
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestationJournal of Clinical Endocrinology & Metabolism, 1994
- Clinical review 56: Nonclassic adrenal hyperplasia: current conceptsJournal of Clinical Endocrinology & Metabolism, 1994
- A steroid 21-hydroxylase allele concomitantly carrying four disease-causing mutations is not uncommon in the Swedish populationHuman Genetics, 1994
- Clinical Aspects of Late-Onset 21-Hydroxylase DeficiencySeminars in Reproductive Medicine, 1993
- The P450 Superfamily: Update on New Sequences, Gene Mapping, Accession Numbers, Early Trivial Names of Enzymes, and NomenclatureDNA and Cell Biology, 1993
- Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiencyMolecular Endocrinology, 1992
- R339H and P453S: CYP21 mutations associated with nonclassic steroid 21- hydroxylase deficiency that are not apparent gene conversionsMolecular Endocrinology, 1992
- In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.Journal of Medical Genetics, 1990
- A rapid method for the purification of DNA from bloodNucleic Acids Research, 1987
- The structural basis of the multiple forms of human complement component C4Cell, 1984