Routine detection of point mutations in non-classic steroid 21-hydroxylase
✍ Scribed by I. Machuca; L. Ibañez; M. R. Bonnín; P. Rosel; B. Arranz; M. A. Navarro
- Publisher
- Springer
- Year
- 1997
- Tongue
- English
- Weight
- 401 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0940-5437
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The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutat
Congenital adrenal hyperplasia due to 21hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identified