65 CHAPTER 3 Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency Richard van Wijk 1 , Annet C. W. van Wesel 1 , Adri A. M. Thomas 2 , Gert Rijksen 3 , and Wouter W. van Solinge 1 1 Department of Clinical Chemistry, and 3 Department of Haematology, University Medical Centre Utrecht, Utrecht, The Netherlands; 2 Department of Developmental Biology, Utrecht University, Utrecht, The Netherlands. British Journal of Haematology, accepted for publication.