Missense Mutations in the Human Glutathione Synthetase Gene Result in Severe Metabolic Acidosis, 5-Oxoprolinuria, Hemolytic Anemia and Neurological Dysfunction

Author： Dahl Niklas  

Publisher： Oxford University Press

ISSN： 1460-2083

Source： Human Molecular Genetics, Vol.6, Iss.7, 1997-01, pp. : 1147-1152

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