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Dystrophic Epidermolysis Bullosa (DEB), COL7A1 Gene- Golden Retriever

Affected gene: COL7A1
Inheritance: Autosomal  Recessive
Mutation: CanFam3.1    20    g.40538034G>A    c.5716G>A

OMIA link: 000341-9615


Breeds: Golden Retriever


Symptoms:

Dystrophic epidermolysis bullosa causes fragile and blistered skin. The blisters can appear in response to a minor injury, even from heat, friction or scratching. In severe cases, the blisters may appear inside the body, such as the lining of the mouth or stomach.


References:

Baldeschi C, Gache Y, Rattenholl A, Bouillé P, Danos O, Ortonne1 J-P, Bruckner-Tuderman L, Meneguzzi1 G (2003) Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Human Molecular Genetics. 12(15):1897-1905. [pubmed/12874109]

Dystrophic Epidermolysis Bullosa (DEB), COL7A1 Gene- Golden Retriever

C$65.00Price

5 tests et + 55$ch.

Quantity

 Après la réception de vos échantillons au laboratoire, veuillez prévoir un délai de 10 à 15 jours ouvrables pour l’envoi de vos résultats.

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