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bibliographicCitation Chiarelli LR, Morera SM, Galizzi A, Fermo E, Zanella A, Valentini G. Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations. Blood Cells, Molecules, and Diseases. 2008 May;40(3):295–301. doi: 10.1016/j.bcmd.2007.10.005.
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title Molecular basis of pyrimidine 5′-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations
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