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pro vyhledávání: '"Frédéarique Kuttenn"'
Autor:
Marie-Charles Raux-Demay, Joelle Boué, Any Bogyo, Benoit Barbat, Frédéarique Kuttenn, André Boué, Brigitte Simon-Bouy, Etienne Mornet, Jean-Louis Serre
Publikováno v:
Human Mutation. 5:126-130
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 chrom