Complete androgen insensitivity due to mutations in the probable {alpha}-helical segments of the DNA-binding domain in the human androgen receptor |
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| Authors: | Beitel, Lenore K. Prior, Lynn Vaslliou, D. Marle Gottlleb, Bruce Kaufman, Morris Lumbroso, Rose Alvarado, Carlos McGillivray, Barbara Triflro, Mark Pinsky, Leonard |
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| Affiliation: | 1Lady Davis Institute, Sir Mortimer B.Davis—Jewish General Hospital 2Departments of Biology 3Departments of Human Genetics 4Departments of Medicine 5Pediatrics, McGill University, Montreal, Quebec H3A 1B1 6Department of Medical Genetics, University of British Columbia, Vancouiver, BC V6H 3N1, Canada |
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| Abstract: | We describe different single-amlno acid aberrations in the DNA-bindingdomain (DBD) of the human androgen receptor (hAR) in three familieswith complete androgen Insensitivity. No additional alterationwas found in the translated portion of each mutant gene. Inone family, an in-frame 3 nt deletion removes codon 581 (or582) and, thereby, one of two phenylalanines that invariablyoccupy adjacent positions in the N-terminal |
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