The detail information of Epidermolysis bullosa, junctionalis, LAMA3-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2005
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| LAMA3 | laminin, alpha 3 | Canis lupus familiaris | Chr7 : 64714403 - 64463775 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2005 |
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 . |
| 2003 |
Guaguere,E.,Capt,A.,Spirito,F.,Meneguzzi,G.: :
Junctional epidermolysis bullosa in the german shorthaired pointer: a spontaneous model for junctional epidermolysis bullosa in man Bull Acad Vet France 157:47-51, 2003. |
| 1997 |
Nagata,M.,Iwasaki,T.,Masuda,H.,Shimizu,H.: :
Non-lethal junctional epidermolysis bullosa in a dog British Journal of Dermatology 137:445-449, 1997. Pubmed reference: 9349347 . |
| 1997 |
Olivry,T.,Poujadedelverdier,A.,Dunston,S.M.,Fine,J.D.,Ortonne,J.P.: :
Absent expression of collagen xvii (BPAG2, BP180) in canine familial localized junctional epidermolysis bullosa Veterinary Dermatology 8:203-212, 1997. |