Dystrophic Epidermolysis Bullosa (Asian Shepherd Type) Overview
Dystrophic Epidermolysis Bullosa (Asian Shepherd Type)
US$ 94.00 RRP
US$ 85.00 REGISTERED USER PRICEADD TO CART
Category: Dermatologic - Associated with the skin
Gene: Collagen type VII alpha 1 chain (COL7A1) Chromosome 20
Variant Detected: Base Substitution c.4579C>T p.Arg1527STOP
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
Test Overview: Symptoms include of skin blisterin and in some cases has lead to euthanasure due to poor prognosis. In post-mortem examination, the puppies were shown to have findings in the skin and the mucosal membranes characteristic of EB.
Research Citation(s): Niskanen, J. Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. (2017) PLoS ONE 12(5): e0177527.
Associated Breed(s): Asian Shepherd, Mixed Breed, Central Asian Shepherd Dog,