The diagnosis of glutathione synthetase deficiency is established by: Low activity of glutathione synthetase in cultured skin fibroblasts and/or red blood cells
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Back Bell, GI, Sangez-Pescador, R, Laybourn, PJ, Najarian RC (1983) 'Exon duplication and divergence in the human preproglucagon gene', Nature , 304, 368-71
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