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Junctional Epidermolysis Bullosa
Breed: German Pointer
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
GTPs
General
Disease Name
Junctional Epidermolysis Bullosa
OMIA
1677
Gene Name
LAMA3
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.
Body/System/Process
Skin
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
German Pointer
HSP Test-Specific Data
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
EBJ
Gene Name
LAMA3
Mutation
c.1514C>T
Nature of test
Linkage
FCI Number
-71
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