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Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene

机译：类固醇17α-羟化酶缺乏：第17A1gene的四个突变（A174e，V178d，R440c，l465p）的功能表征

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Vivek Dhir; Nicole Reisch; Caroline M. Bleicken; Jan Lebl; Clemens Kamrath; Hans-Peter Schwarz; Joachim Grötzinger; Wolfgang G. Sippell; Felix G. Riepe; Wiebke Arlt; Nils Krone;
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1. A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17α-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP17 Gene Mutations [J] . GEN NISHIMURA, KATSUHIKO TACHIBANA, MASANORI ADACHI, Endocrine journal . 1999 ,第2期

机译：男性患者，主要临床症状为糖皮质激素缺乏症和骨骼发育异常，显示类固醇模式与17α-羟化酶/ 17、20-裂合酶缺乏症兼容，但没有明显的CYP17基因突变
2. Clinical, Molecular, Functional, and Structural Characterization of CYP17A1 Mutations in Brazilian Patients with 17-Hydroxylase Deficiency [J] . Coeli-Lacchini Fernanda Borchers, Mermejo Livia M., Bodoni Aline Faccioli, Hormone and Metabolic Research . 2020 ,第3期

机译：巴西17例羟化酶缺乏患者CYP17A1突变的临床，分子，功能性和结构特征
3. A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiencuy and Skeletal Dysplasia, showing A Steroid Pattern Compatible with 17α-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CyP17 Gene Mutations [J] . Masanori Adachi, Katsuhiko Tachibana, Yumi Asakura Endocrine journal . 1999 ,第2期

机译：男性患者，主要表现为糖皮质激素缺乏症和骨骼发育异常，显示类固醇模式与17α-羟化酶/ 17、20-裂合酶缺乏症兼容，但没有明显的CyP17基因突变
4. Functional characterization of wild-type and FTDP-17 tau structural and regulatory mutations on in vitro microtubule dynamic instability. [D] . Levy, Sasha Frederic. 2005

机译：野生型和FTDP-17 tau结构和调节突变对体外微管动态不稳定性的功能表征。
5. Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency [O] . Eun Yeong Mo, Ji-young Lee, Su Yeon Kim, 2018

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
6. A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations. [O] . MASANORI ADACHI, KATSUHIKO TACHIBANA, YUMI ASAKURA, 1999

机译：一种患有糖皮质激素缺乏症和骨骼发育不良的主要临床症状的男性患者，显示与17.alpha.-羟化酶/ 17,20-裂解酶缺乏相容的类固醇图案，但没有明显的CYP 17基因突变。

Steroid 17α-Hydroxylase Deficiency: Functional Characterization of Four Mutations (A174E, V178D, R440C, L465P) in theCYP17A1Gene

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