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...
Main Authors: | , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Public Library of Science
2013
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628801/ |