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To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS). DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced. 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 codon resulting premature termination for translation. A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.

Citation

Jian-hong Xie, Jing-hui Qu, Qi-zhi Xiao, Yu-qiu Zhou. 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. 2013 Feb;30(1):99-101

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PMID: 23450491

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