Analysis of the Association between theHLA-DQA1Alleles and the Steroid 21-Hydroxylase Gene Mutations in the Patients with Congenital Adrenal Hyperplasia
โ Scribed by N. S. Osinovskaya; T. E. Ivashchenko; V. S. Baranov
- Book ID
- 111608748
- Publisher
- SP MAIK Nauka/Interperiodica
- Year
- 2004
- Tongue
- English
- Weight
- 31 KB
- Volume
- 40
- Category
- Article
- ISSN
- 1022-7954
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๐ SIMILAR VOLUMES
## Communicated by Vladislav Baranov Mutations in 2 1 hydroxylase gene were investigated in 40 Russian patients with congenital adrenal hyperplasia. Quantitative amplificationhestriction procedure was used for detection of mutations in. volving promoter region, 3 and 8 exons. For affected chromoso
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p