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
| Autor: | Patocs, Attila a, Liko, István b, Varga, Ibolya a, Gergics, Peter a, Boros, Andras b, Futo, Laszlo c, Kun, Imre d, Bertalan, Rita e, Toth, Szilvia b, Pazmany, Tamas b, Toth, Miklós a, Szücs, Nikolette a, Horanyi, Janos f, Glaz, Edit a, Racz, Karoly a, ⁎ |
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| Zdroj: | In Journal of Steroid Biochemistry and Molecular Biology 2005 97(3):257-265 |
| Databáze: | ScienceDirect |
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