Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were refractory to treatment with phenobarbital. Magnetic re...

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Bibliographic Details
Main Authors: Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons
Format: Article
Language:English
Published: Oxford University Press 2020-08-01
Series:G3: Genes, Genomes, Genetics
Subjects:
feline
whole exome sequencing
lysosomal storage disease
batten disease
mutation
hereditary
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.120.401407

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