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Article

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients.

Journal of genetics - 1 Dec 2016

Saranya Balachandran, Bhavani Gunasekaran, Arumugam Brindha, Jayashankar Meena, Santhiya Sathiyavedu Thyagarajan

Abstract excerpt

Molecular characterization of 23 cytogenetically confirmed XY females was attempted by screening coding regions of SRY and androgen receptor (AR) genes. Five of the index cases showed sequence variations in various exons of the AR gene: a deletion (n.1911delG) and substitutions n.1761G>A and n.1317C>T in exon 1; n.3510C>T transition in exon 6 and deletion mutation (n.3672delT) in exon 7. Four mutations identified...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gonadal Dysgenesis, 46,XY

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Share to Receptors, Androgen

Share to Sex-Determining Region Y Protein

Source

Identifiers

PMID: 27994190
DOI: 10.1007/s12041-016-0716-0

Genes

SRY

Provenance

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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