Screening of CYP21 gene mutations in 129
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Benoit Barbat; Any Bogyo; Marie-Charles Raux-Demay; FrΓ©dΓ©arique Kuttenn; Joelle
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Article
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1995
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John Wiley and Sons
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English
β 503 KB
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