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
- 1 December 1994
- journal article
- case report
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (12), 2213-2218
- https://doi.org/10.1093/hmg/3.12.2213