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Neuroaxonal Dystrophy (Papillon Type) Overview

Neuroaxonal Dystrophy (Papillon Type)
US$ 75.00 RRP
US$ 67.50 REGISTERED USER PRICE
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: Phospholipase A2 group VI (PLA2G6) on Chromosome 10

Variant Detected: Base Substitution c.1579G>A p.A526T

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): Tsuboi M, et al. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. (2017) Plos One 12(1); e0169002.

Associated Breed(s): Mixed Breed,  Papillon,