Article
Molecular pathology of steroid 21-hydroxylase deficiency.
The Journal of steroid biochemistry and molecular biology - 1 Jan 1991
Strachan T, White P C
Abstract excerpt
The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence. Because the pathological point mutations o...
Topics
- Adrenal Glands
- Adrenal Hyperplasia, Congenital
- Chromosome Deletion
- DNA Mutational Analysis
- Gene Conversion
- Genotype
- Humans
- Phenotype
- Steroid 21-Hydroxylase