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A Frameshift Mutation in the Cubilin Gene (CUBN) in Border Collies with Imerslund-Gräsbeck Syndrome (Selective Cobalamin Malabsorption)

Imerslund-Gräsbeck syndrome (IGS) or selective cobalamin malabsorption has been described in humans and dogs. IGS occurs in Border Collies and is inherited as a monogenic autosomal recessive trait in this breed. Using 7 IGS cases and 7 non-affected controls we mapped the causative mutation by genome...

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Autors principals: Owczarek-Lipska, Marta, Jagannathan, Vidhya, Drögemüller, Cord, Lutz, Sabina, Glanemann, Barbara, Leeb, Tosso, Kook, Peter H.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3628801/
https://ncbi.nlm.nih.gov/pubmed/23613799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0061144
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