| Literature DB >> 2891769 |
R L Dawkins1, E Martin, P H Kay, M J Garlepp, A N Wilton, M S Stuckey.
Abstract
Careful genotyping of three families, each having a member with classical salt-losing steroid 21-hydroxylase deficiency, has allowed identification of carrier haplotypes. Digestion with TaqI or EcoRI and probing with a cDNA probe for the 21-hydroxylase genes (pC21/3c) revealed that all six affected haplotypes are abnormal with at least EcoRI. The data suggest that there is extreme polymorphism of the 21-hydroxylase genes and that dysfunction may result from several different abnormalities.Entities:
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Year: 1987 PMID： 2891769 DOI： 10.1111/j.1744-313x.1987.tb00367.x
Source DB: PubMed Journal: J Immunogenet ISSN： 0305-1811