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Article

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

The Journal of clinical endocrinology and metabolism - 1 Jun 2002

Lajić Svetlana, Clauin Séverine, Robins Tiina, Vexiau Patrick, Blanché Hélène, Bellanne-Chantelot Christine, Wedell Anna

Abstract excerpt

We studied the functional and structural consequences of two novel missense mutations in CYP21 found in women with hyperandrogenism. The women were predicted to carry mutations by hormonal evaluation, but did not display any of the genotypes commonly associated with congenital adrenal hyperplasia. In one woman the novel mutation V304M was found in homozygous form. After expression in COS-1 cells the mutated...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12050257
DOI: 10.1210/jcem.87.6.8525

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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