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Article

Molecular pathology of 21-hydroxylase deficiency.

Journal of inherited metabolic disease - 1 Jan 1994

Strachan T

Abstract excerpt

Steroid 21-hydroxylase deficiency is a recessively inherited disorder of adrenal steroidogenesis. Different clinical variants map to a single gene CYP21B, which maps within the HLA complex and is located about 30 kb proximal to a very closely related 21-hydroxylase pseudogene, CYP21A. The two CYP21 genes are located on highly homologous tandemly repeated 30kb units, facilitating interlocus sequence exchanges. One...

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PMID: 7967493
DOI: 10.1007/BF00711358

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