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Article

Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.

Human mutation - 1 Mar 2004

MacLean Helen E, Ball Emma M A, Rekaris Georgia, Warne Garry L, Zajac Jeffrey D

Abstract excerpt

We have identified androgen receptor (AR) gene mutations in eight Australian subjects with complete androgen insensitivity syndrome (AIS). Four individuals, from three families, have novel mutations that introduce premature termination codons. Two siblings have the nonsense mutation Glu681X, and another subject has the nonsense mutation p.Ser884X. The other subject has a CA insertion at codon 829...

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PMID: 14974091
DOI: 10.1002/humu.9221

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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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