Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s11596-024-2857-3.pdf
Reference44 articles.
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2. Baughan MA, Valentine WN, Paglia DE, et al. Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency—a new enzyme defect of human erythrocytes. Blood, 1968,32(2):236–249
3. Zu Y, Wang H, Lin W, et al. Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report. BMC Pediatr, 2022,22(1):461
4. Sampagar A, Gosavi M, Kedar P, et al. Clinical, laboratory, and mutational profile of children with glucose phosphate isomerase deficiency: a single centre report. Int J Hematol, 2022,115(2):255–262
5. Mojzikova R, Koralkova P, Holub D, et al. Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin. Blood Cells Mol Dis, 2018,69:23–29
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