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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Location of point mutations in the glucose-6-phosphate dehydrogenase molecule and associated DNA

Location of point mutations in the glucose-6-phosphate dehydrogenase molecule and associated DNA
G6PD deficiency Distribution along the glucose-6-phosphate dehydrogenase (G6PD) sequence of point mutations causing G6PD deficiency in three groups of patients: class 1 (severe deficiency with nonspherocytic hemolytic anemia), class II (severe deficiency with intermittent hemolysis), and class III (moderate to mild deficiency). The three classes tend to have different distributions. In particular, class I mutants tend to be clustered in the region of the putative glucose-6-phosphate binding site (cDNA nucleotides 613-615; amino acid 205) and the putative NADP-binding site (nucleotides 1156-1161; amino acids 386 and 387).
Data from Beutler, E, Blood 1994; 84:3613.
Graphic 66818 Version 2.0

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