机译:一名患有性早熟的日本男孩的黄体生成素/促性腺激素受体的第七跨膜区段中的新型C617Y突变
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, 1-757, Asahimachi, Niigata 951-8510, Japan;
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan;
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan;
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan;
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata 951-8510, Japan;
peripheral precocious puberty; testotoxicosis; LHCGR gene; activating mutation; hypothalamo-pituitary- gonadal axis;
机译:一名患有性早熟的日本男孩的黄体生成素/促性腺激素受体的第七跨膜区段中的新型C617Y突变
机译:在一个黄体生成激素受体发生新突变的男孩中,用阿那曲唑和比卡鲁胺治疗家族性男性有限性早熟(睾丸中毒)。
机译:黄体生成激素受体的单一体细胞激活Asp578His突变会导致患有促性腺激素独立性早熟男孩的Leydig细胞肿瘤。
机译:遗传性异质性的人类黄体生成素受体在家族性男性有限性早熟中的组成性激活突变。
机译:含有外周急性青春期的日本男孩的第7次跨膜段中的新型C617Y突变。