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Dystrophic Epidermolysis Bullosa (Asian Shepherd Type) Overview

Dystrophic Epidermolysis Bullosa (Asian Shepherd Type)
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US$ 85.00 REGISTERED USER PRICE
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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,