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Article

Molecular analysis of the androgen-receptor gene in a family with receptor-positive partial androgen insensitivity: an unusual type of intronic mutation.

American journal of human genetics - 1 Nov 1997

Brüggenwirth H T, Boehmer A L, Ramnarain S, Verleun-Mooijman M C, Satijn D P, Trapman J, Grootegoed J A, Brinkmann A O

Abstract excerpt

In the coding part and the intron-exon boundaries of the androgen-receptor gene of a patient with partial androgen insensitivity, no mutation was found. The androgen receptor of this patient displayed normal ligand-binding parameters and migrated as a 110-112-kD doublet on SDS-PAGE in the absence of hormone. However, after culturing of the patient's genital skin fibroblasts in the presence of hormone, the...

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PMID: 9345099
DOI: 10.1086/301605
PMCID: PMC1716041

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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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