Article
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
The Journal of clinical endocrinology and metabolism - 1 Aug 2003
Stikkelbroeck Nike M M L, Hoefsloot Lies H, de Wijs Ilse J, Otten Barto J, Hermus Ad R M M, Sistermans Erik A
Abstract excerpt
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. The aim of this study was to assess the frequencies of CYP21 mutations and to study genotype-phenotype correlation in a large population of Dutch 21-hydroxylase deficient patients. From 198 patients with 21-hydroxylase deficiency, 370 unrelated alleles were studied. Gene...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- DNA Mutational Analysis
- DNA, Complementary
- Frameshift Mutation
- Genotype
- Humans
- Multigene Family
- Mutation
- Netherlands