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Article

Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Aug 2007

Jeske Y W A, McGown I N, Cowley D M, Oley C, Thomsett M J, Choong C S Y, Cotterill A M

Abstract excerpt

We genotyped the androgen receptor (AR) gene in 31 Australasian patients with androgen insensitivity syndrome (AIS). The entire coding region of AR was examined including analysis of polymorphic CAG and GGN repeats in all patients. AR defects were found in 66.7% (6/9) of patients with complete AIS (CAIS) and 13.6% (3/22) of patients with partial AIS (PAIS). A novel deletion (N858delG) leading to a premature stop...

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Identifiers

PMID: 17937062
DOI: 10.1515/jpem.2007.20.8.893

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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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