Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction
- 1 April 1992
- journal article
- Published by Springer Science and Business Media LLC in Human Genetics
- Vol. 89 (1), 109-110
- https://doi.org/10.1007/bf00207055
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.Journal of Clinical Endocrinology & Metabolism, 1992
- Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.1991
- First Trimester Prenatal Treatment and Molecular Genetic Diagnosis of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)*Journal of Clinical Endocrinology & Metabolism, 1990
- Direct Analysis of CYP21B Genes in 21-Hydroxylase Deficiency using Polymerase Chain Reaction AmplificationMolecular Endocrinology, 1990
- Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.Proceedings of the National Academy of Sciences of the United States of America, 1988
- Oligonucleotide probes for HLA-DQA and DQB genes define susceptibility to Type 1 (insulin-dependent) diabetes mellitusDiabetologia, 1988
- A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency.1988
- Molecular and clinical advances in congenital adrenal hyperplasiaThe Journal of Pediatrics, 1987
- Congenital Adrenal HyperplasiaThe New England Journal of Medicine, 1987