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Article

Functional analysis of a novel androgen receptor mutation, Q902K, in an individual with partial androgen insensitivity.

The Journal of clinical endocrinology and metabolism - 1 Jan 2005

Umar Arzu, Berrevoets Cor A, Van N Mai, van Leeuwen Marije, Verbiest Michael, Kleijer Wim J, Dooijes Dennis, Grootegoed J Anton, Drop Stenvert L S, Brinkmann Albert O

Abstract excerpt

Androgen insensitivity syndrome (AIS) is caused by defects in the androgen receptor (AR) that render the AR partially or completely inactive. As a result, embryonic sex differentiation is impaired. Here, we describe a novel mutation in the AR found in a patient with partial AIS. The mutation results in a substitution of a glutamine (Q) by a lysine (K) residue at position 902, Q902K. The AR Q902K mutation was...

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Identifiers

PMID: 15486055
DOI: 10.1210/jc.2004-0057

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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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