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Neuronal Ceroid Lipofuscinosis NCL (Saluki Type)
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
CLN8
Variant Detected:
c.349dupT (p.Glu117*)
Severity:
Severe. This disease has a high impact on affected animals, either with severe clinical signs causing significant suffering, or carrying a rapidly fatal course.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Lingaas, F., Guttersrud, O.A., Arnet, E., Espenes, A. : Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018. Pubmed reference: 29446145. DOI: 10.1111/age.12629.
Associated Breed(s):
Saluki,
