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Article

A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.

Genetic testing and molecular biomarkers - 1 Jul 2012

Vasu Vidya Rendheer, Saranya Balachandran, Jayashankar Meena, Munirajan Arasambattu Kannan, Santhiya Sathiyavedu Thyagarajan

Abstract excerpt

Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion mutation in exon 6 (c.2762 del C), a substitution mutation (c.2925 C>T), and a novel splice donor...

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Source

Identifiers

PMID: 22799610
DOI: 10.1089/gtmb.2011.0292

Genes

SRY

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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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