Article
Microsatellite markers in the indirect analysis of the steroid 21-hydroxylase gene.
Prenatal diagnosis - 1 May 1997
Ezquieta B, Jariego C, Varela J M, Oliver A, Gracia R
Abstract excerpt
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to steroid 21-hydroxylase (21-OH) deficiency has been proved to be effective. Screening for a panel of nine point mutations, deletions, and gene conversions allows the identification of most of the mutations, although 6.12 per cent of chromosomes remain uncharacterized. In the present study, microsatellite typing in the HLA region was...
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