DonateDystrophic Epidermolysis Bullosa
Breed: Eurasian
Generic Phene Data
Breeds
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Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Dystrophic Epidermolysis Bullosa
Mutation
c.5716G>A
Mutation 2
c.202+1G>C
Details
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth, and am affected mucosal linings. Age of onset from birth.
Details 2
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth, and am affected mucosal linings. Age of onset from birth. Considered rare.
Published
Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109.
Breed Specific Info
Researched Breeds
Golden Retrievers
Breed-specific 1
Golden Retrievers
Breed-specific 1 Details
Research specific to Golden Retrievers: 2003 Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109. Research supports that the mutation as described in this paper is likely causal for risk of this condition.
Breed Specific Data
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
Gene Name
COL7A1
Mutation
c.5716G>A
Mutation Comment
c.202+1G>C
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