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Kinetic properties of missense mutations in patients with glutathilone synthetase deficiency

Njalsson, Runa; Carlsson, Katarina; Olin, B; Carlsson, B; Whitbread, L; Polekhina, Galina; Parker, Michael William; Norgren, Svante; Mannervik, Bengt; Board, Philip; Larsson, Ann-Kristin

Description

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

CollectionsANU Research Publications
Date published: 2000
Type: Journal article
URI: http://hdl.handle.net/1885/89580
Source: Biochemical Journal
DOI: 10.1042/0264-6021:3490275

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