PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1980 December; 17(6): 447–452.
PMCID: PMC1885920

Location of the gene for 21-hydroxylase deficiency.

Abstract

HLA typing of 33 families with one or more children suffering from congenital adrenal hyperplasia confirmed that the gene for 21-hydroxylase deficiency is closely associated with the HLA region. Analysis of two families in which recombination of chromosome 6 had occurred indicated that the gene locus is between the A and D loci of the HLA region. The rare allele Bw47 was observed in 18 parents and was always associated with the carrier state for 21-hydroxylase deficiency.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (468K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Hughes IA, Laurence KM. Antenatal diagnosis of congenital adrenal hyperplasia. Lancet. 1979 Jul 7;2(8132):7–9. [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Group