Partial deficiency of red cell 6-phosphogluconate dehydrogenase: a family study.
A family with partial deficiency of erythrocytic 6PGD is described. Biochemical and electrophoretic analysis suggest that the partial deficiency is due to a silent PGD0 allele. Chromosomal analysis and assay of closely linked markers do not reveal a grossly detectable deletion.
D000328:Adult; D000483:Alleles; D002877:Chromosomes, Human / Q000648:ultrastructure; D004586:Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D010734:Phosphogluconate Dehydrogenase / Q000172:deficiency*
D010734:Phosphogluconate Dehydrogenase