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  • Title: In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
    Author: Rumsby G, Honour JW.
    Journal: J Med Genet; 1990 Nov; 27(11):676-8. PubMed ID: 2277381.
    Abstract:
    A simple, rapid, non-radioactive method for detecting homozygous deletions/conversions of the steroid 21-hydroxylase gene is described. In our experience this method will be useful for first trimester prenatal diagnosis of congenital adrenal hyperplasia in 17% of families of a child with the salt losing form. This test includes an internal control to monitor the success of amplification.
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