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Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

✍ Scribed by A. Asanuma; T. Ohura; Eishin Ogawa; Sachiko Sato; Yutaka Igarashi; Yoichi Matsubara; Kazuie Iinuma


Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
162 KB
Volume
44
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