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Article

Androgen receptor mutations associated with androgen insensitivity syndrome: a high content analysis approach leading to personalized medicine.

PloS one - 9 Dec 2009

Szafran Adam T, Hartig Sean, Sun Huiying, Uray Ivan P, Szwarc Maria, Shen Yuqing, Mediwala Sanjay N, Bell Jennifer, McPhaul Michael J, Mancini Michael A, Marcelli Marco

Abstract excerpt

Androgen insensitivity syndrome (AIS) is a rare disease associated with inactivating mutations of AR that disrupt male sexual differentiation, and cause a spectrum of phenotypic abnormalities having as a common denominator loss of reproductive viability. No established treatment exists for these...

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Identifiers

PMID: 20011049
DOI: 10.1371/journal.pone.0008179
PMCID: PMC2785468

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20011049-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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