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A heritable neurodegenerative disease of English Setters has long been studied as a model of human neuronal ceroid-lipofuscinosis (NCL).
$ 50.00
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Associated Breed(s):
Click here to view Associated Breeds
Category:
Genetic Diseases
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Gene:
CLN8, transmembrane ER and ERGIC protein (CLN8) on Chromosome 37
Variant Detected:
Base Substitution c.491C>T p.Leu164Pro
Mode of Inheritance:
Recomended Screening:
Research Citation(s):