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

Molecular Genetics and Metabolism

Volumn 109, Issue 4, 2013, Pages 390-396

  Fyfe, John C ^a,b   Hemker, Shelby L ^a   Venta, Patrick J ^b   Fitzgerald, Caitlin A ^c   Outerbridge, Catherine A ^d   Myers, Sherry L ^d   Giger, Urs ^c  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b Michigan State University East Lansing ^*  (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

Amnionless; Animal model; Cubilin; Inborn error; Methylmalonic aciduria; Vitamin B12

Indexed keywords

COBALAMIN; CUBILIN; CYANOCOBALAMIN; CELL SURFACE RECEPTOR; INTRINSIC FACTOR-COBALAMIN RECEPTOR; PROTEIN BINDING;

ALLELE; ANEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BINDING SITE; BODY WEIGHT; BONE MARROW EXAMINATION; CHROMOSOME 2; CODON; CONTROLLED STUDY; DNA SEQUENCE; DOG DISEASE; ERYTHROBLAST; EXON; FEMALE; FRAMESHIFT MUTATION; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HOMOZYGOSITY; HYPERAMMONEMIA; ILEUM; IMERSLUND GRSBECK SYNDROME; KETONURIA; KIDNEY BIOPSY; KIDNEY PROXIMAL TUBULE; LETHARGY; MALABSORPTION; MALAISE; MALE; MATING; METABOLIC ACIDOSIS; METHYLMALONIC ACIDURIA; NEUTROPENIA; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN URINE LEVEL; PROTEINURIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOMACH JUICE; SUPPLEMENTATION; WESTERN BLOTTING; ANIMAL; DOG; GENE EXPRESSION REGULATION; GENETICS; HUMAN; KIDNEY; MALABSORPTION SYNDROMES; METABOLISM; RNA STABILITY; VITAMIN B 12 DEFICIENCY;

ANIMALIA; CANIS FAMILIARIS;

ANIMALS; DOGS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; HUMANS; ILEUM; KIDNEY; MALABSORPTION SYNDROMES; MALE; PROTEIN BINDING; PROTEINURIA; RECEPTORS, CELL SURFACE; RNA STABILITY; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84880784942     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.05.006     Document Type: Article

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