congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
congenital nonspherocytic hemolytic anemia
hemolytic anemia due to a disorder of glycolytic enzymes
Monarch Disease Ontology release 2018-06-29
cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384----Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia