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Junctional Epidermolysis Bullosa

General

Disease Name
Junctional Epidermolysis Bullosa
Mutation
4818+2078ins6.5kb
Test Type
Genetic Disease/Disorder
Details
Blistering of the skin and mucous membranes due to a reduction in the amount of a protein required for connecting layers of skin
Details 2
Blisters in and around the mouth and on the limbs... resulting in inability to stand. (From OMIA)
Published
Capt, A., Spirito, F., Guaguere, E., Spadafora, A., Ortonne, J.P., Meneguzzi, G. : Inherited junctional epidermolysis bullosa in the German Pointer: establishment of a large animal model. J Invest Dermatol 124:530-5, 2005. Pubmed reference: 15737193. DOI: 10.1111/j.0022-202X.2004.23584.x.
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