Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. [electronic resource]
- Neurogenetics Mar 1998
- 205-11 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1364-6745
10.1007/s100480050030 doi
Adult Age of Onset Alleles Alternative Splicing Amino Acid Sequence Amino Acid Substitution Base Sequence DNA--chemistry DNA Mutational Analysis Genetic Heterogeneity Germany Glycogen Storage Disease Type II--enzymology Humans Introns--genetics Lysosomes--enzymology Middle Aged Mutagenesis, Insertional Phenotype Point Mutation Sequence Deletion Sequence Homology, Amino Acid Sequence Homology, Nucleic Acid alpha-Glucosidases--deficiency