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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.
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Associated Breed(s):
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Category:
Genetic Diseases
Severity:
Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
Gene:
Collagen type VII alpha 1 chain (COL7A1) Chromosome 20
Variant Detected:
Base Substitution c.4579C>T p.Arg1527STOP
Mode of Inheritance:
Recomended Screening:
Research Citation(s):