GBE1 mutants [cytosol]

Stable Identifier
R-HSA-3878772
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
8613547 Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.

Bao, Y, Kishnani, P, Wu, JY, Chen, Y-T

J Clin Invest 1996
Participants
Disease
Name Identifier Synonyms
glycogen storage disease IV 2750 deficiency of 1,4-alpha-glucan branching enzyme, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Amylopectinosis, Glycogen storage disease, type IV (disorder)