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An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs

  • Published:2013-08 Issue:4 Volume:109 Page:390-396
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Fyfe John C.,Hemker Shelby L.,Venta Patrick J.,Fitzgerald Caitlin A.,Outerbridge Catherine A.,Myers Sherry L.,Giger Urs

Funder

NIH

MSU Laboratory of Comparative Medical Genetics

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference44 articles.

1. Idiopathic chronic megaloblastic anemia in children;Imerslund;Acta Paedr. Scand.,1960

2. Familial vitamin B12 malabsorption;Imerslund;Acta Haemat.,1963

3. Selective vitamin B12 malabsorption and proteinuria in young people;Gräsbeck;Acta Med. Scand.,1960

4. Vitamin B12 deficiency;Stabler;N. Engl. J. Med.,2013

5. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, CUBN, cause hereditary megaloblastic anaemia 1;Aminoff;Nat. Genet.,1999

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