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Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Nat Genet. 1999 Mar;21(3):309-13. doi: 10.1038/6831.
Nat Genet. 1999.
PMID: 10080186
Characterization of an epithelial approximately 460-kDa protein that facilitates endocytosis of intrinsic factor-vitamin B12 and binds receptor-associated protein.
Birn H, Verroust PJ, Nexo E, Hager H, Jacobsen C, Christensen EI, Moestrup SK.
Birn H, et al.
J Biol Chem. 1997 Oct 17;272(42):26497-504. doi: 10.1074/jbc.272.42.26497.
J Biol Chem. 1997.
PMID: 9334227
Free article.
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The human intrinsic factor-vitamin B12 receptor, cubilin: molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGA1) region.
Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N, Verroust PJ, Moestrup SK.
Kozyraki R, et al.
Blood. 1998 May 15;91(10):3593-600.
Blood. 1998.
PMID: 9572993
Free article.
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