Reappraisal of triosephosphate isomerase deficiency.
Orosz
Ferenc
F
Oláh
Judit
J
Ovádi
Judit
J
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics; D002675:Child, Preschool; D018389:Codon, Nonsense; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D011487:Protein Conformation; D014305:Triose-Phosphate Isomerase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*
D018389:Codon, Nonsense; D014305:Triose-Phosphate Isomerase