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Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

✍ Scribed by Robert C. Wilson; Saroj Nimkarn; Miro Dumic; Jihad Obeid; Maryam Azar; Hossein Najmabadi; Fatemeh Saffari; Maria I. New


Book ID
116987952
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
345 KB
Volume
90
Category
Article
ISSN
1096-7192

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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