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Molecular Identification of Collagen 17a1 as a Major Genetic Modifier of Laminin Gamma 2 Mutation-Induced Junctional Epidermolysis Bullosa in Mice

Epidermolysis Bullosa (EB) encompasses a spectrum of mechanobullous disorders caused by rare mutations that result in structural weakening of the skin and mucous membranes. While gene mutated and types of mutations present are broadly predictive of the range of disease to be expected, a remarkable a...

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Detalles Bibliográficos
Autores principales: Sproule, Thomas J., Bubier, Jason A., Grandi, Fiorella C., Sun, Victor Z., Philip, Vivek M., McPhee, Caroline G., Adkins, Elisabeth B., Sundberg, John P., Roopenian, Derry C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923665/
https://www.ncbi.nlm.nih.gov/pubmed/24550734
http://dx.doi.org/10.1371/journal.pgen.1004068