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% of the 158 unrelated congenital adrenal hyperplasia alleles, whereas the most frequent point mutations were intron 2...
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