Article
The frequency of CYP 21 gene mutations in Turkish women with hyperandrogenism.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 May 2009
Kelestimur F, Everest H, Dundar M, Tanriverdi F, White C, Witchel S F
Abstract excerpt
OBJECTIVE: The congenital adrenal hyperplasias (CAH) are a group of autosomal recessive disorders due to decreased activity of the enzymes responsible for cortisol biosynthesis. Since CYP21 gene mutations in non-classical CAH (NC-CAH) due to 21-hydroxylase deficiency among Turkish women have not been well characterized, we performed CYP21 genotype analyses to determine the frequency of specific mutations in our...
Topics
- Amino Acid Substitution
- Female
- Gene Frequency
- Genetic Carrier Screening
- Hirsutism
- Humans
- Hyperandrogenism
- Mutation
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational