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doi: 10.1002/2211-5463.12687
10.1182/blood-2010-07-294983 24 BroylA.CorthalsS
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening
Chen G, Ge D, Zhu B, Shi H, Ma Q
p.Asp256Val) is a rare SERPINA1 variant that has been associated with exaggerated intracellular degradation of newly synthetized protein and to 24% of normal serum levels
