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Functional Analysis of Four CYP21 Mutations from Spanish Patients with Congenital Adrenal Hyperplasia

✍ Scribed by B.Scott Nunez; M.Natividad Lobato; Perrin C. White; Anna Meseguer


Book ID
115584370
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
50 KB
Volume
262
Category
Article
ISSN
0006-291X

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## 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