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Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

30 May 2008

Abstract excerpt

PURPOSE: Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder characterized by progressive vision loss. The disease results from mutations in the TPP1 (CLN2) gene. Studies were undertaken to characterize the effects of a TPP1 frameshift mutation on the retina in Dachshunds. METHODS: A litter of four puppies consisting of one homozygous affected dog, two heterozygotes, and one homozygous...

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PMID: 18344450
DOI: 10.1167/iovs.08-1712

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