Article
[A molecular method of diagnosis of congenital adrenal hyperplasia].
Harefuah - 1 Dec 2000
Israel S, Brautbar C
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is caused mainly by deficiency of the 21-hydroxylase enzyme. The disease may appear in the classical salt-losing, simple virilizing forms or as a mild, nonclassical form. 21-hydroxylase is encoded by the CYP21B gene on the short arm of chromosome 6, in the midst of the human leukocyte antigen (HLA) complex, between HLA Class I and Class II regions. We describe a method for...
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