Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17,20-lyase deficiency: Demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling

Attila Patocs1, István Liko2, Ibolya Varga1, Peter Gergics1, Andras Boros2, Laszlo Futo3, Imre Kun4, Rita Bertalan5, Szilvia Toth2, Tamas Pazmany2, Miklós Toth1, Nikolette Szücs1, Janos Horanyi6, Edit Glaz1, Karoly Racz1
12nd Department of Medicine, Faculty of Medicine, Semmelweis University, 1088 Budapest, Szentkirályi 46, Hungary
2Gedeon Richter Ltd., 1103 Budapest, Gyomroi 19-21, Hungary
31st Department of Internal Medicine, Ferenc Markhot Hospital, Eger, Hungary
4University of Medicine and Pharmacy, Endocrinology Clinic, Tg.Mures, Romania
5Csolnoky F County Hospital Veszprem, Hungary
61st Department of Surgery, Faculty of Medicine, Semmelweis University, 1082 Budapest, Üllői 78, Hungary

Tài liệu tham khảo

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