Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow |
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Authors: | Maciag Monika Plochocka Danuta Jablonska-Skwiecinska Ewa Mendek-Czajkowska Ewa Golaszewska Ewa Strojny Wojciech Balwierz Walentyna Zdebska Ewa Burzynska Beata |
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Institution: | Institute of Biochemistry and Biophysics, PAS, Warszawa, Poland. |
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Abstract: | We present three novel mutations in the G6PD gene and discuss the changes they cause in the 3-dimensional structure of the enzyme: 573C-->G substitution that predicts Phe to Leu at position 191 in the C-terminus of helix alphae, 851T-->C mutation which results in the substitution 284Val--> -->Ala in the beta+alpha domain close to the C-terminal part of helix alphaj, and 1175T-->C substitution that predicts Ile to Thr change at position 392. |
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