DNA-based diagnosis of red cell enzymopathies: how we threw out the baby with the bathwater.
Beutler
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D015720:5'-Nucleotidase / Q000172:deficiency / Q000235:genetics; D004247:DNA / Q000097:blood*; D004252:DNA Mutational Analysis; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D007962:Leukocytes / Q000737:chemistry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*
D004247:DNA; D015720:5'-Nucleotidase