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Research Article
In vitro gene amplification for prenatal diagnosis of congenital adrenal hyperplasia.
  1. G Rumsby,
  2. J W Honour
  1. Department of Chemical Pathology, University College and Middlesex School of Medicine, London.

    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.

    https://doi.org/10.1136/jmg.27.11.676

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