Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experience
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DOI: 10.1002/ajh.25150
Abstract: Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3‐bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen‐sensing pathway proteins PHD, HIF2α, and VHL. Our laboratory has 40 years of experience with hemoglobin… read more here.
Keywords: genotype phenotype; phenotype correlation; hereditary erythrocytosis; erythrocytosis ... See more keywords