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Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome

✍ Scribed by C. Choi; K. C. Kim; H. O. Kim; S. H. Cho; J. B. Lee; I. S. Kim; K. K. Park; N. H. Cho; S. W. Juhng

Publisher: Springer
Year: 2000
Tongue: English
Weight: 77 KB
Volume: 263
Category: Article
ISSN: 0003-9128
DOI: 10.1007/s004040050284

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An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon