Complete androgen insensitivity in a 47,
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Uehara, Shigeki ;Tamura, Mitsutoshi ;Nata, Masayuki ;Kanetake, Jun ;Hashiyada, M
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Article
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1999
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John Wiley and Sons
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English
β 37 KB
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We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and