Molecular Genetic Analysis of Nonclassic Steroid 21-Hydroxylase Deficiency Associated with HLA-B14,DR1
- 7 July 1988
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 319 (1) , 19-23
- https://doi.org/10.1056/nejm198807073190104
Abstract
Nonclassic steroid 21-hydroxylase deficiency is a frequent, relatively mild disorder of cortisol biosynthesis, characterized by variable signs of postnatal androgen excess. It is inherited as an allelic variant of the gene designated CYP21B, which encodes 21-hydroxylase. CYP21B is located in the HLA histocompatibility complex, and a "nonclassic" allelic variant is often associated with characteristic HLA antigens — B14,DR1.This publication has 38 references indexed in Scilit:
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