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bibliographicCitation Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9223. PMID: 15024738.
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title Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency
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