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Article

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.

Human genetics - 1 Apr 1993

Wedell A, Luthman H

Abstract excerpt

Lesions in the gene encoding the adrenal enzyme steroid 21-hydroxylase (P450c21) result in defective adrenal cortisol synthesis, often accompanied by aldosterone deficiency. The symptoms range from severe neonatal disease to inconspicuous symptoms in adulthood depending on the nature of the mutations. The 21-hydroxylase gene is present in close proximity to a highly homologous pseudogene, and both genes show...

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PMID: 8478006
DOI: 10.1007/BF00218263

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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