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机译:三种新型CYP17A1突变的临床,遗传和功能特征,导致17α-羟化酶/ 17,20-裂解酶缺乏
University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland;
University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland;
University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland;
University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland;
University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland;
University Children's Hospital Steinwiesstrasse 75 CH-8032 Zurich Switzerland;
Adrenal gland; Intersex; Mutation analysis; P450c17; Steroidogenesis;
机译:三种新型CYP17A1突变的临床,遗传和功能特征,导致17α-羟化酶/ 17,20-裂解酶缺乏
机译:成人17-羟化酶/ 17,20-裂合酶缺乏症常见CYP17A1突变的文献综述,韩国人中此类突变的病例系列以及新型突变的功能特征
机译:在17α-羟化酶/ 17,20-裂合酶缺乏症中发现了三个新的CYP17A1基因突变(A82D,R125X和C442R)
机译:圆核对虾P450 17a-羟化酶/ 17,20-裂解酶(CYP17)cDNA的克隆与序列分析
机译:mo猴17α-羟化酶/ 17,20-裂合酶细胞色素P450:体内观察到的酶结构与功能与低循环DHEA水平之间的关系
机译:CYP17A1基因复合杂合突变的功能鉴定,导致17α-羟化酶/ 17,20-合酶缺乏症
机译:导致17α-羟化酶/ 17,20-裂合酶缺乏症的三种新CYP17A1突变的临床,遗传和功能特征