Ontology highlight
ABSTRACT:
SUBMITTER: Bubier JA
PROVIDER: S-EPMC3010368 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Bubier Jason A JA Sproule Thomas J TJ Alley Lydia M LM Webb Cameron M CM Fine Jo-David JD Roopenian Derry C DC Sundberg John P JP
The Journal of investigative dermatology 20100325 7
Epidermolysis bullosa (EB) is a class of intractable, rare, genetic disorders characterized by fragile skin and blister formation as a result of dermal-epidermal mechanical instability. EB presents with considerable clinical and molecular heterogeneity. Viable animal models of junctional EB (JEB), that both mimic the human disease and survive beyond the neonatal period, are needed. We identified a spontaneous, autosomal recessive mutation (Lamc2(jeb)) due to a murine leukemia virus long terminal ...[more]