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Characterization of polymorphisms at the 11 beta-hydroxylase (CYP11B1) locus
C A Skinner1, N Yousaf, J W Honour
1Department of Molecular Pathology, UCL Medical School, London.
Annals of Human Genetics
|October 6, 1998
Abstract:
Four sequence variants in the 11 beta-hydroxylase (CYP11B1) gene are reported. One of the sequence changes occurs in exon 1 and is in linkage disequilibrium with a second variant in intron 3. The other two changes occur at adjacent nucleotides in intron 1. The finding of easily demonstrable, intragenic variants will be beneficial to the study of the role of the CYP11B1 and the adjacent aldosterone synthase (CYP11B2) gene in hypertensive disease.