Associated Papers
Genetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.
Xi BX et al.
Current Medical Science, 2024
Identification of haemolytic anaemia caused by glucose phosphate isomerase deficiency in a thalassaemia-endemic region: Correction of misdiagnosis and consideration of the cause of misdiagnosis.
Zhu D et al.
British Journal of Haematology, 2023
Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.
Kedar PS et al.
Indian Journal of Pediatrics, 2019
Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.
Del Orbe Barreto R et al.
International Journal of Laboratory Hematology, 2016
Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.
Manco L et al.
Blood Cells, Molecules & Diseases, 2016
Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.
Repiso A et al.
Human Mutation, 2006
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