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A novel missense mutation in the γ-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production

Clinical Trials & Observations
David Hamilton, Jian Hui Wu, Moulay Alaoui-Jamali, Gerald Batist
Journal: Blood
Blood (2003) 102 (2): 725–730.
https://doi.org/10.1182/blood-2002-11-3622
Published: 2003