Article
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.
The Journal of clinical endocrinology and metabolism - 1 Oct 2001
Baumgartner-Parzer S M, Schulze E, Waldhäusl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F, Vierhapper H
Abstract excerpt
This study attempted an analysis of the mutational spectrum of 21-hydroxylase deficiency in 79 unrelated Austrian patients with classical and nonclassical forms of congenital adrenal hyperplasia and their respective 112 family members. Apparent large gene deletions/conversions were present in 31%...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Female
- Genotype
- Humans
- Male
- Mutation, Missense
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase