Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference32 articles.
1. Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.
2. Sequence of the complete cDNA and the 5′ structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase
3. Cloning of the Schwanniomyces occidentalis glucoamylase gene (GAM1) and its expression in Saccharomyces cerevisiae
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