G6PC mutants

Stable Identifier
R-HSA-3274535
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
11058910 A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)

Wu, MC, Tsai, FJ, Lee, CC, Tsai, CH, Wu, JY

Hum. Mutat. 2000
10834516 Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart

Rake, JP, ten Berge, AM, Visser, G, Verlind, E, Niezen-Koning, KE, Buys, CH, Smit, GP, Scheffer, H

Eur. J. Pediatr. 2000
18449899 Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease

Chou, JY, Mansfield, BC

Hum. Mutat. 2008
8211187 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

Lei, K-J, Shelly, LL, Pan, CJ, Sidbury, JB, Chou, JY

Science 1993
Participants
members
Disease
Name Identifier Synonyms
glycogen storage disease I 2749 deficiency of glucose-6-phosphatase, glycogenosis type I, von Gierke's disease, glycogen storage disease type I, Glycogen storage disease, type I (disorder), von Gierke disease