SLC37A4 mutants [endoplasmic reticulum membrane]

Stable Identifier
R-HSA-3229129
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
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Literature References
PubMed ID Title Journal Year
9758626 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic

Fenske, CD, Chen, Y-T, Leonard, JV, Schweitzer, S, de Barsy, T, Maire, I, Lee, PJ, de Lonlay, P, Vikkula, M, McConkie-Rosell, A, Gerin, I, Dionisi-Vici, C, Veiga-da-Cunha, M, Van Schaftingen, E

Am. J. Hum. Genet. 1998
Participants
members
Disease
Name Identifier Synonyms
glycogen storage disease I DOID: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
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