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Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency

机译：在P450c17缺乏症患者中鉴定出的三个新的错义CYP17突变对17α-羟化酶和17,20-裂合酶活性的差异抑制

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Akker E.L.T. (Erica) van den; Koper J.W. (Jan); Boehmer A.L.M. (Annemie); Themmen A.P.N. (Axel); Verhoef-Post M. (Miriam); Timmerman M.A. (Marianna); Otten B.J. (Barto); Drop S.L.S. (Stenvert); Jong F.H. (Frank) de;
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年度 2002
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1. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling. [J] . Patocs A, Liko I, Varga I, The Journal of Steroid Biochemistry and Molecular Biology . 2005,第3期

机译：CYP17基因的新型突变在两名无关联的17α-羟化酶/ 17,20-裂合酶缺乏症患者中：通过表达突变的CYP17基因并通过三维建模来证明缺乏酶活性。
2. A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency. [J] . Hahm JR, Kim DR, Jeong DK, Metabolism: Clinical and Experimental . 2003,第4期

机译：CYP17（P450 17alpha-羟化酶）基因中的新型复合杂合突变导致17alpha-羟化酶/ 17,20-裂合酶缺乏症。
3. Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency. [J] . Bhangoo A, Aisenberg J, Chartoffe A, Journal of pediatric endocrinology & metabolism: JPEM . 2008,第2期

机译：细胞色素P450c17中的新型突变会导致17α-羟化酶/ 17,20-裂合酶完全缺乏。
4. Cloning and Sequence Analysis of a cDNA of P450 17a-Hydroxylase/17,20-Lyase(CYP17) from Strongylocentrotus nudus [C] . Guo Xiaoli, Liu Yang, Qiu Xuemei, 2010 4th International Conference on Bioinformatics and Biomedical Engineering . 2010

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
5. Adenylosuccinate lyases (ASL) from Bacillus subtilis and Homo sapiens: I. Evaluation of types of interactions in the subunit interface II. Studies of five point mutations and mutant ASL hybrids associated with ASL deficiency [D] . De Zoysa Ariyananda, Lushanti M. 2010

机译：来自枯草芽孢杆菌和智人的腺苷琥珀酸裂合酶（ASL）：I.亚基界面中相互作用类型的评估II。与ASL缺乏有关的五点突变和ASL杂种突变体的研究
6. 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
7. Differential Inhibition of 17-Hydroxylase and 17,20- Lyase Activities by Three Novel Missense CYP17 Mutations Identified in Patients with P450c17 Deficiency [O] . Jan W. Koper, Annemie L. M. Boehmer, Axel P. N. Themmen, 2015

机译：p450c17缺陷患者中鉴定出的三种新型错义CYp17突变对17-羟化酶和17,20-裂解酶活性的差异抑制

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency

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