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Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice

Previous work strongly implicated Collagen 17a1 (Col17a1) as a potent genetic modifier of junctional epidermolysis bullosa (JEB) caused by a hypomorphic mutation (Lamc2(jeb)) in mice. The importance of the noncollagenous domain (NC4) of COLXVII was suggested by use of a congenic reduction approach t...

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Detalles Bibliográficos
Autores principales: Sproule, Thomas J., Wilpan, Robert Y., Low, Benjamin E., Silva, Kathleen A., Reyon, Deepak, Joung, J. Keith, 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/PMC10553217/
https://www.ncbi.nlm.nih.gov/pubmed/37796769
http://dx.doi.org/10.1371/journal.pone.0292456