Ontology highlight
ABSTRACT:
SUBMITTER: Kolicheski A
PROVIDER: S-EPMC5598891 | biostudies-other | 2017 Sep
REPOSITORIES: biostudies-other
Kolicheski A A Johnson G S GS Villani N A NA O'Brien D P DP Mhlanga-Mutangadura T T Wenger D A DA Mikoloski K K Eagleson J S JS Taylor J F JF Schnabel R D RD Katz M L ML
Journal of veterinary internal medicine 20170820 5
Consistent with a tentative diagnosis of neuronal ceroid lipofuscinosis (NCL), autofluorescent cytoplasmic storage bodies were found in neurons from the brains of 2 related Shiba Inu dogs with a young-adult onset, progressive neurodegenerative disease. Unexpectedly, no potentially causal NCL-related variants were identified in a whole-genome sequence generated with DNA from 1 of the affected dogs. Instead, the whole-genome sequence contained a homozygous 3 base pair (bp) deletion in a coding reg ...[more]