Article
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
The Biochemical journal - 1 Jul 2000
Njålsson R, Carlsson K, Olin B, Carlsson B, Whitbread L, Polekhina G, Parker M W, Norgren S, Mannervik B, Board P G, Larsson A
Abstract excerpt
Patients with hereditary glutathione synthetase (GS) (EC 6.3.2.3) deficiency present with variable clinical pictures, presumably related to the nature of the mutations involved. In order to elucidate the relationship between genotype, enzyme function and clinical phenotype, we have characterized enzyme kinetic parameters of missense mutations R125C, R267W, R330C and G464V from patients with GS deficiency. One of...
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