Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme.

Triose-phosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketol-isomerase, EC 5.3.1.1) deficiency is a recessive disorder that results in hemolytic anemia and neuromuscular dysfunction. To determine the molecular basis of this disorder, a TPI allele from two unrelated patients homozygous for TPI...

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Publié dans:	Proc Natl Acad Sci U S A
Auteurs principaux:	Daar, I O, Artymiuk, P J, Phillips, D C, Maquat, L E
Format:	Artigo
Langue:	Inglês
Publié:	National Academy of Sciences 1986
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC386831/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2876430/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.83.20.7903
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