GBE1 mutants [cytosol]

Stable Identifier
R-HSA-3878772
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
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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
members
Disease
Name Identifier Synonyms
glycogen storage disease IV DOID:2750 deficiency of 1,4-alpha-glucan branching enzyme, brancher deficiency glycogenosis, Branching-transferase deficiency glycogenosis (disorder), Amylopectinosis, Glycogen storage disease, type IV (disorder)
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