G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion
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منابع مشابه
G6PD Nara: a new class 1 glucose-6-phosphate dehydrogenase variant with an eight amino acid deletion.
In the course of molecular studies on Japanese glucose-6-phosphate dehydrogenase (G6PD) variants using single-strand conformation polymorphisms (SSCP) analysis, we found an unusual class 1 G6PD variant that had nucleotide deletion in exon 9. The patient showed chronic nonspherocytic hemolytic anemia associated with frequent episodes of severe hemolytic attack. The hemolysate exhibited no measur...
متن کاملglucose-6-phosphate dehydrogenase (g6pd) deficiency
glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most prevalent enzymopathy in mankind. it has sex-linked inheritance. this enzyme exists in all cells. g6pd deficiency increases the sensitivity of red blood cells to oxidative damage. g6pd deficiency was discovered in 1950 when some people suffered hemolytic anemia as a result of taking antimalarial drugs (primaquin). most people w...
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I NVESTJGATIONS OF RED CELL GLUCOSE-6-PHOSPHATE DEHYDROGENASE ( D-glucose-6-phosphate: NADP oxidoreductase, EC 1.1.1.49; G6PD ) in different human populations have shown that more than 50 variants exist at this time.1’2 Genetic studies are compatible with X-linkage of all G6PD variants. Some variants are associated with normal enzyme activity and therefore are not accompanied by any clinical ma...
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...
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Congenital nonspherocytic hemolytic anemia in an adult male of Scandinavian ancestry was associated with virtual absence of G6PD activity in red cells. Characterization of G6PD purified from leukocytes using standard WHO techniques revealed diminished electrophoretic mobility, marked lability on heating at 46 degrees C, normal pH optimum and utilization of alternate substrates (2-deoxy G6P, D-a...
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ژورنال
عنوان ژورنال: Blood
سال: 1993
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v82.11.3250.3250