Associated Papers
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Montalvo AL et al.
Molecular Genetics and Metabolism, 2004
A mutation in a highly conserved region in brush-border sucrase-isomaltase and lysosomal alpha-glucosidase results in Golgi retention.
Moolenaar CE et al.
Journal of Cell Science, 1997
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