Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease.
DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease.