Article
[Adrenogenital syndrome. II. Molecular biology].
Tijdschrift voor kindergeneeskunde - 1 Feb 1991
Koppens P F, Hoogenboezem T, Degenhart H J
Abstract excerpt
The adrenogenital syndrome (AGS) is usually caused by steroid 21-hydroxylase deficiency. Two steroid 21-hydroxylase genes are present within the major histocompatibility complex (MHC) on chromosome 6: an active gene (CYP21) and a pseudogene (CYP21P). Several types of mutations have been described...
Topics
- Adrenal Hyperplasia, Congenital
- Chromosome Deletion
- Chromosomes, Human, Pair 6
- DNA Probes
- Genes, MHC Class I
- Humans
- Major Histocompatibility Complex
- Mutation
- Polymorphism, Restriction Fragment Length
- Steroid 21-Hydroxylase
