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Article

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.

PLoS genetics - 1 Oct 2011

Wöhlke Anne, Philipp Ute, Bock Patricia, Beineke Andreas, Lichtner Peter, Meitinger Thomas, Distl Ottmar

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form of NCL manifesting first visible signs at 5-7 years of age. Genome-wide association analyses for 12...

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Identifiers

PMID: 22022275
DOI: 10.1371/journal.pgen.1002304
PMCID: PMC3192819

Genes

NCL

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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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