Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)

André B. P. van Kuilenburg; Judith Meijer; Adri N. P. M. Mul; Raoul C. M. Hennekam; Jan M. N. Hoovers; Christine E. M. de Die-Smulders; Peter Weber; Andrea Capone Mori; Jörgen Bierau; Brian Fowler; Klaus Macke; Jörn Oliver Sass; Rutger Meinsma; Julia B. Hennermann; Peter Miny; Lida Zoetekouw; Raymon Vijzelaar; Joost Nicolai; Bauke Ylstra; M. Estela Rubio-Gozalbo