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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Owczarek-Lipska, Marta, Jagannathan, Vidhya, Drögemüller, Cord, Lutz, Sabina, Glanemann, Barbara, Leeb, Tosso, Kook, Peter H.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2013
विषय:
Research Article
ऑनलाइन पहुंच: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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