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Article

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs.

The Journal of steroid biochemistry and molecular biology - 1 Sept 2006

Werner Ralf, Schütt Jenny, Hannema Sabine, Röpke Albrecht, Wieacker Peter, Hiort Olaf, Holterhus Paul-Martin

Abstract excerpt

Assessment of quantitative impairment of reporter gene activation is an important strategy proving pathogenetic relevance of androgen receptor (AR)-gene mutations in androgen insensitivity syndrome (AIS). We hypothesized the additional existence of mutation-specific patterns of reduced target gene activation. Four AR-gene mutations causing AIS, L712F, M780I, R855H, and V866M, respectively, were recreated in an...

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PMID: 16930995
DOI: 10.1016/j.jsbmb.2006.06.016

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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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