Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease

Heterozygous missense mutations in the human COL7A1 gene – coding for collagen VII – lead to the rare, dominantly inherited skin disorder dominant dystrophic epidermolysis bullosa (DDEB), which is characterised by skin fragility, blistering, scarring and nail dystrophy. To better understand the path...

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Detalles Bibliográficos
Autores principales: Smith, Blake R. C., Nyström, Alexander, Nowell, Cameron J., Hausser, Ingrid, Gretzmeier, Christine, Robertson, Susan J., Varigos, George A., Has, Cristina, Kern, Johannes S., Pang, Ken C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8214732/
https://www.ncbi.nlm.nih.gov/pubmed/34085701
http://dx.doi.org/10.1242/dmm.048082

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