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
| Collections | ANU 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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