New genetic variants of glucose 6-phosphate dehydrogenase (G6PD) in Italy.
Six new variants of human erythrocyte G6PD have been characterized. All of them were found in Italian males and all were associated with enzyme deficiency, but only two with signs of haemolysis. These and other variants reported in the literature, which must thus far be regarded as sporadic, are found to map in parts of Italy where common types of G6PD deficiency are also prevalent.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001797:Blood Protein Electrophoresis; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010375:Pedigree
D005954:Glucosephosphate Dehydrogenase