Abstract
A new G6PD variant in two unrelated families of Sicilian extraction is described. It is characterized by an enzyme activity amounting to 20% of normal, by a slow electrophoretic mobility, decreased Km values for both TPN and G6P, increased utilization of substrates analogues, thermolability and biphasic pH curve. It has been named G6PD Trinacria.
Publication types
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Comparative Study
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Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
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Adult
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Child, Preschool
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Female
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Genetic Variation*
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Glucosephosphate Dehydrogenase / metabolism*
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Glucosephosphates / metabolism
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Humans
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Hydrogen-Ion Concentration
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Italy
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Kinetics
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Male
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NADP / metabolism
Substances
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Glucosephosphates
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NADP
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Glucosephosphate Dehydrogenase