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Article

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.

Human genetics - 1 Jun 1997

Lajic S, Levo A, Nikoshkov A, Lundberg Y, Partanen J, Wedell A

Abstract excerpt

Lesions in the gene encoding steroid 21-hydroxylase result in congenital adrenal hyperplasia, with impaired secretion of cortisol and aldosterone from the adrenal cortex and overproduction of androgens. A limited number of mutations account for the majority of mutated alleles, but additional rare mutations are responsible for the symptoms in some patients. A total of 11 missense mutations has previously been...

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Identifiers

PMID: 9187661
DOI: 10.1007/s004390050436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.PMID 9187661Read ↗

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Integrated Functional and Structural Analysis of Eleven <em>CYP21A2 </em>Variants of Uncertain Significance Resolves Their Pathogenic Role in Congenital Adrenal HyperplasiaSemantic proximity Read ↗

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