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New prenatal diagnosis mehod of steroid 21-hydroxylase deficiency and mutations in CYP21B gene of Japanese patients

✍ Scribed by Z. Hayashi; A. Yamanaka; S. Suzuki; R. Sawa; Y. Yoneyama; Y. Asakura; T. Araki


Book ID
117125085
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
158 KB
Volume
70
Category
Article
ISSN
0020-7292

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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