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Article

Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2014

Tadokoro-Cuccaro Rieko, Davies John, Mongan Nigel P, Bunch Trevor, Brown Rosalind S, Audi Laura, Watt Kate, McEwan Iain J, Hughes Ieuan A

Abstract excerpt

Androgen receptor (AR) mutations are associated with androgen insensitivity syndrome (AIS). Missense mutations identified in the AR-N-terminal domain (AR-NTD) are rare, and clinical phenotypes are typically mild. We investigated 7 missense mutations and 2 insertion/deletions located in the AR-NTD. This study aimed to elucidate the pathogenic role of AR-NTD mutants in AIS and to use this knowledge to further...

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Identifiers

PMID: 25500996
DOI: 10.1159/000369266

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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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