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Defective GIF causes intrinsic factor deficiency

Stable Identifier
R-HSA-3359457
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Defects in GIF cause hereditary intrinsic factor deficiency (IFD, aka congenital pernicious anemia; MIM:261000). IFD is an autosomal recessive disorder characterized by megaloblastic anemia (Tanner et al. 2005).

Literature References
PubMed ID Title Journal Year
15738392 Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene Proc. Natl. Acad. Sci. U.S.A. 2005
Participants
Participant Of