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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| Vydáno v: | Proc Natl Acad Sci U S A |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
National Academy of Sciences
1986
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| Témata: | |
| On-line přístup: | 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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