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Structural analysis of the chimericCYP21P/CYP21gene in steroid 21-hydroxylase deficiency

✍ Scribed by H.-H. Lee; D.-M. Niu; R.-W. Lin; P. Chan; C.-Y. Lin

Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
84 KB
Volume
47
Category
Article
ISSN
1435-232X

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The frequency of 12 different mutations of the steroid 21-hydroxylase gene (CYP21) was investigated in 129 French patients affected by congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency. Eighty-nine percent of the CAH chromosomes were characterized. The most frequent mutat