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Year | Number of Results |
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1999 | 1 |
2000 | 1 |
2013 | 1 |
2024 | 0 |
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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
Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin.
Kristiansen M, Aminoff M, Jacobsen C, de La Chapelle A, Krahe R, Verroust PJ, Moestrup SK.
Kristiansen M, et al.
Blood. 2000 Jul 15;96(2):405-9.
Blood. 2000.
PMID: 10887099
Free article.
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Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
Storm T, Zeitz C, Cases O, Amsellem S, Verroust PJ, Madsen M, Benoist JF, Passemard S, Lebon S, Jønsson IM, Emma F, Koldsø H, Hertz JM, Nielsen R, Christensen EI, Kozyraki R.
Storm T, et al.
BMC Med Genet. 2013 Oct 24;14:111. doi: 10.1186/1471-2350-14-111.
BMC Med Genet. 2013.
PMID: 24156255
Free PMC article.
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