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Dystrophic Epidermolysis Bullosa (Asian Shepherd Type)

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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.

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:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

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, Central Asian Shepherd Dog, Mixed Breed,

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