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Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow

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Maciag M., Plochocka D., Jablonska-Skwiecinska E., Mendek-Czajkowska E., Golaszewska E., Strojny W., Balwierz W., Zdebska E., Burzynska B.

2007

vol. 54

issue 4

877-881

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 αe, 851T→C mutation which results in the substitution 284Val→→Ala in the β+α domain close to the C-terminal part of helix αj, and 1175T→C substitution that predicts Ile to Thr change at position 392.

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1 Acta Biochimica Polonica

1 2007

1 Balwierz W.

1 Burzynska B.

1 Golaszewska E.

1 Jablonska-Skwiecinska E.

1 Maciag M.

1 Mendek-Czajkowska E.

1 Plochocka D.

1 Strojny W.

1 Zdebska E.

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Molecular analysis of three novel G6PD variants: G6PD Pedoplis-Ckaro, G6PD Piotrkow and G6PD Krakow