Identification and Characterization of Aberrant Splicing in Pompe Disease Using a Generic Approach
Issue title: Abstracts from the 7th European Symposium on Steps Forward in Pompe Disease: Turin, Italy, November 21–22, 2014
Article type: Research Article
Authors: Bergsma, Atze J.; ; | Kroos, Marian; | Hoogeveen-Westerveld, Marianne; | Halley, Dicky | van der Ploeg, Ans T.; | Pim Pijnappel, W.W.M.; ;
Affiliations: Molecular Stem Cell Biology, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands | Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, Netherlands | Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, Netherlands | Molecular Diagnostics, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands
Note: [] Correspondence to: W.W.M. Pim Pijnappel, Department of Clinical Genetics, Erasmus MC University Medical Center, Faculty building, Room Ee-916a, P.O. Box 2040, 3000 CA Rotterdam, Netherlands. E-mail: w.pijnappel@erasmusmc.nl
DOI: 10.3233/JND-159035
Journal: Journal of Neuromuscular Diseases, vol. 2, no. s1, pp. S39-S39, 2015