Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

Vorgerd, M

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