HLA Typing of Patients with 21-Hydroxylase Deficiency in Iranian Children with Congenital Adrenal Hyperplasia
โ Scribed by Mohammad Taghi Haghi Ashtiani; Ali Rabbani; Fereidoun Mostafavi; Maryam Monajemzadeh; Fahimeh Ranjbar Kermani; Jila Soltaninia
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 155 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0006-2928
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Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three classes: salt-wasting (classical), non-classical and simple virilizing, reflecting different degrees of clinical severity. Using polymerase chain r
## 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