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Dahl, N., Pigg, M., Ristoff, E., Gali, R., Carlsson, B., Mannervik, B., Larsson, A. and Board, P. (1997) Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction. Human Molecular Genetics, 6(7), 1147-1152.

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