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Article

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

Journal of veterinary internal medicine - 1 Jul 2016

Kolicheski A, Johnson G S, O'Brien D P, Mhlanga-Mutangadura T, Gilliam D, Guo J, Anderson-Sieg T D, Schnabel R D, Taylor J F, Lebowitz A, Swanson B, Hicks D, Niman Z E, Wininger F A, Carpentier M C, Katz M L

Abstract excerpt

BACKGROUND: Neuronal ceroid lipofuscinosis (NCL), a fatal neurodegenerative disease, has been diagnosed in young adult Australian Cattle Dogs. OBJECTIVE: Characterize the Australian Cattle Dog form of NCL and determine its molecular genetic cause. ANIMALS: Tissues from 4 Australian Cattle Dogs with NCL-like signs and buccal swabs from both parents of a fifth affected breed member. Archived DNA samples from 712...

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Identifiers

PMID: 27203721
DOI: 10.1111/jvim.13971
PMCID: PMC5084771

Genes

NCL
CLN5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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