Article
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Molecular endocrinology (Baltimore, Md.) - 1 Aug 1992
Helmberg A, Tusie-Luna M T, Tabarelli M, Kofler R, White P C
Abstract excerpt
Steroid 21-hydroxylase deficiency is the most common enzymatic defect causing congenital adrenal hyperplasia, an inherited disorder of cortisol biosynthesis. All mutations thus far characterized that cause this disorder appear to result from recombinations between the gene encoding the enzyme, CYP21B (CYP21), and the adjacent pseudogene, CYP21A (CYP21P). These are either deletions caused by unequal crossing-over...
Topics
- Adrenal Hyperplasia, Congenital
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- Female
- Gene Conversion
- Humans
- Molecular Sequence Data
- Mutagenesis, Site-Directed