Partial deficiency of red cell 6-phosphogluconate dehydrogenase: A family study |
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| Authors: | F Ajmar G Lamedica C Garrè R Ravazzolo M Sessarego A Campostano |
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| Institution: | (1) Department of Hematology, ISMI, University of Genova, Viale Benedetto XV, 6, I-16132 Genova, Italy;(2) Ospedale Civile di Rapallo, Div. Medica Generale, I-16132 Genova, Italy |
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| Abstract: | Summary A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD
0 allele.Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.Abbreviations used in this paper
G6PD
glucose-6-phosphate dehydrogenase
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GSSGR
glutathione reductase
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PK
pyruvate kinase
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GSH
glutathione
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PGM
phosphoglucomutase |
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