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Article

[Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013

Xie Jian-hong, Qu Jing-hui, Xiao Qi-zhi, Zhou Yu-qiu

Abstract excerpt

OBJECTIVE: To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS). METHODS: DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced. RESULTS: DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop...

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Identifiers

PMID: 23450491
DOI: 10.3760/cma.j.issn.1003-9406.2013.01.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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