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

Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Gräsbeck syndrome in humans and was previously described in dogs due to amnionless (AMN) mutations. The resultant vitamin B(12) deficiency causes dyshematopoiesis, lethargy, failure to...

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Bibliographic Details
Main Authors: Fyfe, John C., Hemker, Shelby L., Venta, Patrick J., Fitzgerald, Caitlin A., Outerbridge, Catherine A., Myers, Sherry L., Giger, Urs
Format: Artigo
Language:Inglês
Published: 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3729882/
https://ncbi.nlm.nih.gov/pubmed/23746554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.05.006
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