Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a <i>CLN5</i> Nonsense Mutation Previously Identified in Border Collies

Kolicheski, Ana; S. Johnson, Gary; P. O’Brien, Dennis; Mhlanga-Mutangadura, Tendai; Gilliam, D.; Guo, Jiasen; Anderson‐Sieg, T.D.; D. Schnabel, Robert; F. Taylor, Jeremy; Lebowitz, A.; Jay Swanson, Bradley; Hicks, D.; Niman, Zachary; A. Wininger, Fred; Carpentier, Melissa; L. Katz, Martin

doi:10.1111/jvim.13971

Public

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

Published in Journal of Veterinary Internal Medicine • May 21, 2016

Authors:

Ana Kolicheski

Gary S. Johnson

Dennis P. O’Brien

Abstract

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 ...

Subject

Nonsense mutation

Genotyping

Neuronal ceroid lipofuscinosis

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