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van Kuilenburg ABP, Meijer J, Maurer D, Dobritzsch D, Meinsma R, Los M, Knegt LC, Zoetekouw L, Jansen RLH, Dezentjé V, van Huis-Tanja LH, van Kampen RJW, Hertz JM, Hennekam RCM. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2017 Mar;1863(3):721–30. doi: 10.1016/j.bbadis.2016.12.010. |