A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

BMC Veterinary Research

Volumn 10, Issue 1, 2014, Pages

  Guo, Juyuan ^a   O'Brien, Dennis P ^a   Mhlanga Mutangadura, Tendai ^a   Olby, Natasha J ^b   Taylor, Jeremy F ^c   Schnabel, Robert D ^c   Katz, Martin L ^d   Johnson, Gary S ^a  

^a UNIVERSITY OF MISSOURI   (United States)

^b NORTH CAROLINA STATE UNIVERSITY   (United States)

^c UNIVERSITY OF MISSOURI   (United States)

^d University of Missouri   (United States)

Author keywords

Chinese Crested; MFSD8; Neuronal ceroid lipofuscinosis; Whole genome sequence

Indexed keywords

CARRIER PROTEIN;

ANIMAL; CASE REPORT; CEREBELLUM; DOG; DOG DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENETICS; GENOME; HOMOZYGOTE; MALE; NEUROIMAGING; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; VETERINARY;

ANIMALS; CEREBELLUM; DOG DISEASES; DOGS; FRAMESHIFT MUTATION; GENE DELETION; GENOME; HOMOZYGOTE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; NEUROIMAGING; NEURONAL CEROID-LIPOFUSCINOSES;

EID: 84965088651     PISSN: None     EISSN: 17466148     Source Type: Journal    
DOI: 10.1186/s12917-014-0181-z     Document Type: Article

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