Dystrophic Epidermolysis Bullosa (Asian Shepherd Type) Overview
Dystrophic Epidermolysis Bullosa (Asian Shepherd Type)
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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 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.
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, Mixed Breed,