VARIANT: 2027v1
Help
Entry
2027v1 Variant
Name
ENO3 deficiency
Gene
ENO3
enolase 3 [KO:
K01689
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
131370
Network
nt06017
Glycogen metabolism
Disease
H01953
Glycogen storage disease type XIII
Reference
PMID:
11506403
Authors
Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N
Title
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.
Journal
Ann Neurol 50:202-7 (2001)
DOI:
10.1002/ana.1095
LinkDB
All DBs
DBGET
integrated database retrieval system
