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Article

Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2013

Elfferich P, van Royen M E, van de Wijngaart D J, Trapman J, Drop S L S, van den Akker E L T, Lusher S J, Bosch R, Bunch T, Hughes I A, Houtsmuller A B, Cools M, Faradz S M H, Bisschop P H, Bunck M C M, Oostdijk W, Brüggenwirth H T, Brinkmann A O

Abstract excerpt

Androgen receptor (AR) mutations in androgen insensitivity syndrome (AIS) are associated with a variety of clinical phenotypes. The aim of the present study was to compare the molecular properties and potential pathogenic nature of 8 novel and 3 recurrent AR variants with a broad variety of functional assays. Eleven AR variants (p.Cys177Gly, p.Arg609Met, p.Asp691del, p.Leu701Phe, p.Leu723Phe, p.Ser741Tyr,...

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Identifiers

PMID: 23774508
DOI: 10.1159/000351820

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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