Molecular and Structural Analysis of Two Novel STAR Mutations in Patients with Lipoid Congenital Adrenal Hyperplasia
β Scribed by John C. Achermann; Joshua J. Meeks; Baxter Jeffs; Urmi Das; Peter E. Clayton; Charles G.D. Brook; J.Larry Jameson
- Book ID
- 115639877
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 173 KB
- Volume
- 73
- Category
- Article
- ISSN
- 1096-7192
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Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of allsteroids including glucocorticoids, mineralocorticoids and sexsteroids. It has recently been reported that mutations in thesteroidogenic acute regulatory protein (StAR) gene caus
## 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