Associated Papers
New human bisphosphoglycerate mutase structures provide insights into the structural basis of BPGM deficiency and citrate inhibition.
Martínez-Rodríguez S et al.
International Journal of Biological Macromolecules, 2026
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ et al.
British Journal of Haematology, 2023
Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.
Gangat N et al.
Haematologica, 2022
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
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