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Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

The Lamc2(jeb) junctional epidermolysis bullosa (EB) mouse model has been used to demonstrate that significant genetic modification of EB symptoms is possible, identifying as modifiers Col17a1 and six other quantitative trait loci, several with strong candidate genes including dystonin (Dst/Bpag1)....

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Detalles Bibliográficos
Autores principales: Sproule, Thomas J., Wilpan, Robert Y., Wilson, John J., Low, Benjamin E., Kabata, Yudai, Ushiki, Tatsuo, Abe, Riichiro, Wiles, Michael V., Roopenian, Derry C., Sundberg, John P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602294/
https://www.ncbi.nlm.nih.gov/pubmed/37883475
http://dx.doi.org/10.1371/journal.pone.0293218