The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
Titel:
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
Auteur:
Hermans, Monique M.P. De Graaff, Esther Kroos, Marian A. Mohkamsing, Serita Eussen, Bert J. Joosse, Marijke Willemsen, Rob Kleijer, Wim J. Oostra, Ben A. Reuser, Arnold J.J.