机译:在46,XY女性患者中的一种新的突变(C.341A> g),XY雌性患者的Gonadal Dysenesis
Department of Clinical Genetics Medical University of Lodz Poland;
Department of Clinical Genetics Medical University of Lodz Poland;
Department of Medical Biochemistry Medical University of Lodz Poland;
Department of Andrology and Reproductive Endocrinology Medical University of Lodz Poland;
Clinic of Rapid Diagnostics and Gynecological Therapy Medical University of Lodz Poland;
Clinic of Rapid Diagnostics and Gynecological Therapy Medical University of Lodz Poland;
Department of Clinical Genetics Medical University of Lodz Poland;
Disorder of sex development; HMG-box; Missense mutation; SRY gene;
机译:一名性腺发育不全的46,XY女性患者SRY基因的一个新突变(c.341A> G)
机译:一种新的Sry Sry Gene突变C.266a> T(p.e89V)在46,XY完全性腺脱膜患者中
机译:具有完全性腺发育不全的46,XY女性中的新型SRY基因突变p.F109L
机译:血友病患者减少因子VIII活性和负家庭历史的雌性患者突变检测率
机译:结合美国EPA内分泌干扰物筛查计划的方法2幼虫两栖动物生长发育测定法,开发和测试用于性腺发育不全的基因表达生物标记。
机译:SRY基因的从头移码突变导致患者发生46XY完全性腺发育不全
机译:SRY基因的新型突变导致46例中国患者完全性腺发育不良