Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.
John C FyfeShelby L HemkerAlycia FramptonKarthik RajPeter L NagyKristi J GibbonUrs GigerPublished in: BMC veterinary research (2018)
DNA testing can be used diagnostically in Komondors when clinical signs are suggestive of cobalamin deficiency or to inform Komondor breeders prospectively and prevent occurrence of future affected dogs. This represents the third cubilin variant causing inherited selective cobalamin malabsorption in a large animal ortholog of human Imerslund-Gräsbeck syndrome.