Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.

Triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate ketolisomerase [E.C.5.3.1.1]) deficiency is an autosomal recessive disorder that typically results in chronic, nonspherocytic hemolytic anemia and in neuromuscular impairment. The molecular basis of this disease was analyzed for one Hungar...

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Hlavní autoři: Chang, M L, Artymiuk, P J, Wu, X, Hollán, S, Lammi, A, Maquat, L E
Médium: Artigo
Jazyk:Inglês
Vydáno: 1993
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682273/
https://ncbi.nlm.nih.gov/pubmed/8503454
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