Article
de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings.
The Journal of clinical endocrinology and metabolism - 1 Jul 1993
Tajima T, Fujieda K, Fujii-Kuriyama Y
Abstract excerpt
Over 90% of congenital adrenal hyperplasia (CAH) results from 21-hydroxylase deficiency. Because the CYP21B gene is located within the HLA complex and is very tightly linked to HLA markers, HLA typing is widely used for prenatal diagnosis and identifying heterozygous family members. In the course...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- DNA
- Exons
- HLA Antigens
- Haplotypes
- Heterozygote
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Nucleic Acid Conformation
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- RNA Splicing
- Steroid 21-Hydroxylase