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Article

Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome.

Human genetics - 1 Oct 1998

Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Byström B, Pousette A, Chibalin A V, Arvidsson S, Tiulpakov A, Semitcheva T V, Peterkova V, Hagenfeldt K, Ritzén E M, Wedell A

Abstract excerpt

Five mutations in the ligand-binding domain of the androgen receptor gene were identified in patients with complete (A765T, C784Y, R831X and M895T) or partial (R840G) androgen insensitivity. A765T and R831X have been reported previously whereas the other three mutations are novel. Receptors carrying these mutations were transiently expressed in COS-1 cells, and androgen binding and capacity to transactivate an...

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Identifiers

PMID: 9856504
DOI: 10.1007/s004390050864

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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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