Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.

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作者： John C,Fyfe ^[1] ; Shelby L,Hemker ^[2] ; Alycia,Frampton ^[1] ; Karthik,Raj ^[3] ; Peter L,Nagy ^[4] ; Kristi J,Gibbon ^[4] ; Urs,Giger ^[5]

作者单位： Laboratory of Comparative Medical Genetics, Michigan State University, 567 Wilson Road, East Lansing, MI, 48824, USA. ^[1] Department of Microbiology & Molecular Genetics, Michigan State University, 567 Wilson Road, East Lansing, MI, 48824, USA. ^[2] Present address: Department of Pediatrics, Division of Nephrology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, 4401 Penn Ave, Pittsburgh, PA, 15224, USA. ^[3] Section of Medical Genetics, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104-6010, USA. ^[4] Laboratory of Personalized Genomic Medicine, Department of Pathology & Cell Biology, Columbia University - College of Physicians & Surgeons, 630 West 168th Street, New York, NY, 10032, USA. ^[5] Present address: MNG Laboratories™, 5424 Glenridge Drive NE, Atlanta, GA, 30342, USA. ^[6] Oregon Veterinary Referral Associates, 444 B Street, Springfield, OR, 97477, USA. ^[7] , Cottonwood Heights, USA. ^[8] Section of Medical Genetics, University of Pennsylvania, 3900 Delancey Street, Philadelphia, PA, 19104-6010, USA. giger@upenn.edu. ^[9]

关键词 Amnionless Animal model Cubilin Failure to thrive Inborn error of metabolism Methylmalonic aciduria Vitamin B12