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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...

Topics

Androgen-Insensitivity Syndrome
Base Sequence
Cloning, Molecular
DNA-Binding Proteins
Dihydrotestosterone
Humans
Molecular Sequence Data
Mutation
Oligonucleotides
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Androgen

Structure-Activity Relationship

Zinc Fingers

Source

Open in PubMed Open full text

Identifiers

PMID: 1999491
DOI: 10.1172/JCI115076
PMCID: PMC329911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1999491-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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