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Article

A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.

The Journal of clinical investigation - 1 Mar 1991

Marcelli M, Zoppi S, Grino P B, Griffin J E, Wilson J D, McPhaul M J

Abstract excerpt

Androgen resistance is associated with a wide range of quantitative and qualitative defects in the androgen receptor. However, fibroblast cultures from approximately 10% of patients with the clinical, endocrine, and genetic features characteristic of androgen resistance express normal quantities of apparently normal androgen receptor in cultured genital skin fibroblasts (receptor-positive androgen resistance). We...

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

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Identifiers

PMID: 1999491
DOI: 10.1172/JCI115076
PMCID: PMC329911

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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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A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance.PMID 1999491Read ↗

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Genetic basis of endocrine disease. 4. The spectrum of mutations in the androgen receptor gene that causes androgen resistance.Semantic proximity Read ↗

Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.Semantic proximity Read ↗

Androgen resistance due to mutation of the androgen receptor.Semantic proximity Read ↗

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Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg----Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.Semantic proximity Read ↗

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