Article
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 1992
Wedell A, Ritzén E M, Haglund-Stengler B, Luthman H
Abstract excerpt
Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations i...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- Female
- Frameshift Mutation
- Genotype
- Haplotypes
- Humans
- Leukocytes
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Phenotype
- Polymerase Chain Reaction
- Reference Values