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Triosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structureTriosephosphate isomerase deficiency: Effect of F240L mutation on enzyme structure
Structural highlights
DiseaseTPIS_HUMAN Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450. TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. FunctionSee Also |
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