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Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia

โœ Scribed by Dairena Gaffney; A. Forbes Howie; Anwar M. El. Bakkush; Thorsten M. Hoffmann; J. Ian Mason; A. Michael Wallace; Malcolm D.C. Donaldson


Book ID
116698623
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
525 KB
Volume
123
Category
Article
ISSN
0960-0760

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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