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Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha- hydroxylase/17-20-lyase deficiency in two French Canadian patients

机译：细胞色素P450C17基因中的突变R96W导致两种法国加拿大患者中的17例α-羟化酶/ 17-20-裂解酶缺陷组合

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N. Laflamme;
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年度 1996
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1. Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): Combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency [J] . MarshC.A., AuchusR.J. Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2014,第2期

机译：具有细胞色素P450c17（CYP17A1）遗传缺陷的患者的生育力：合并17-羟化酶/ 17,20-裂合酶缺乏症和孤立的17,20-裂合酶缺乏症
2. 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。
3. 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。
4. Investigation of Underlying Reasons of Factor VIM Deficiency in Hemophilia A Patients with Undetectable Mutations in the F8 Gene [C] . O.El-Maarri, C.Klein, J.Schroder, Hemophilia Symposium . 2008

机译：血友病因子vim缺乏症患者F8基因患者
5. Expression and regulation of prostaglandin receptors and cytochrome P450c17 hydroxylase in the late gestation ovine placenta. [D] . Fantauzzi, Michelle Rosemary. 2008

机译：妊娠晚期胎盘中前列腺素受体和细胞色素P450c17羟化酶的表达和调控。
6. Cytochrome P450c17 (steroid 17 alpha-hydroxylase/1720 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues. [O] . B C Chung, J Picado-Leonard, M Haniu, 1987

机译：细胞色素P450c17（类固醇17α-羟化酶/ 1720裂合酶）：人肾上腺和睾丸cDNA的克隆表明在两个组织中表达相同的基因。
7. Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient Deficiência combinada de 17α-hidroxilase/17,20 liase devido à mutação p.R96W no gene CYP17 em um paciente brasileiro [O] . Fabíola Costenaro, Ticiana C. Rodrigues, Claudio E. Kater, 2010

机译：一名巴西患者的CYP17基因p.R96W突变导致17α-羟化酶/17.20裂合酶缺乏症

Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha- hydroxylase/17-20-lyase deficiency in two French Canadian patients

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