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Neuronal Ceroid Lipofuscinosis 1 (Dachshund Type) Overview

Neuronal Ceroid Lipofuscinosis 1 (Dachshund Type)
US$ 75.00 RRP
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: Palmitoyl-protein thioesterase 1 (PPT1) on Chromosome 15

Variant Detected: Nucleotide Insertion c.736insC p.frameshift

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): Sanders, DN. et al. A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund (2010), Mol Genet and Metab 100(4);349–356

Associated Breed(s): Dachshund ,  Miniature Dachshund Long Hair,  Miniature Dachshund Smooth Hair,  Miniature Dachshund Wire Hair,  Standard Dachshund Long Hair,  Standard Dachshund Smooth Hair,  Standard Dachshund Wire Hair,  Mixed Breed,