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2. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro. Holterhus PM; Werner R; Struve D; Hauffa BP; Schroeder C; Hiort O Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980 [TBL] [Abstract][Full Text] [Related]
4. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. Raicu F; Giuliani R; Gatta V; Palka C; Franchi PG; Lelli-Chiesa P; Tumini S; Stuppia L Asian J Androl; 2008 Jul; 10(4):687-91. PubMed ID: 18097502 [TBL] [Abstract][Full Text] [Related]
5. Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity. Elhaji YA; Stoica I; Dennis S; Purisima EO; Lumbroso R; Beitel LK; Trifiro MA Hum Mol Genet; 2006 Mar; 15(6):921-31. PubMed ID: 16449235 [TBL] [Abstract][Full Text] [Related]
6. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype. Tadokoro R; Bunch T; Schwabe JW; Hughes IA; Murphy JC Clin Endocrinol (Oxf); 2009 Aug; 71(2):253-60. PubMed ID: 19178528 [TBL] [Abstract][Full Text] [Related]
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9. In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits. Werner R; Zhan J; Gesing J; Struve D; Hiort O Sex Dev; 2008; 2(2):73-83. PubMed ID: 18577874 [TBL] [Abstract][Full Text] [Related]
10. Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome. Chávez B; Méndez JP; Ulloa-Aguirre A; Larrea F; Vilchis F J Hum Genet; 2001; 46(10):560-5. PubMed ID: 11587068 [TBL] [Abstract][Full Text] [Related]
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12. Analysis of exon 1 mutations in the androgen receptor gene. Gottlieb B; Vasiliou DM; Lumbroso R; Beitel LK; Pinsky L; Trifiro MA Hum Mutat; 1999; 14(6):527-39. PubMed ID: 10571951 [TBL] [Abstract][Full Text] [Related]
13. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain. Murono K; Mendonca BB; Arnhold IJ; Rigon AC; Migeon CJ; Brown TR Hum Mutat; 1995; 6(2):152-62. PubMed ID: 7581399 [TBL] [Abstract][Full Text] [Related]
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