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Article

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

Human mutation - 1 Jan 2004

Gordon Marilyn M, Brada Nancy, Remacha Angel, Badell Isabel, del Río Elisabeth, Baiget Montserrat, Santer René, Quadros Edward V, Rothenberg Sheldon P, Alpers David H

Abstract excerpt

Congenital intrinsic factor (IF) deficiency is a disorder characterized by megaloblastic anemia due to the absence of gastric IF (GIF, GenBank NM_005142) and GIF antibodies, with probable autosomal recessive inheritance. Most of the reported patients are isolated cases without genetic studies of the parents or siblings. Complete exonic sequences were determined from the PCR products generated from genomic DNA of...

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PMID: 14695536
DOI: 10.1002/humu.10297

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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