Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.
van Wijk
Richard
R
Rijksen
Gert
G
van Solinge
Wouter W
WW
D000483:Alleles; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*
D011770:Pyruvate Kinase