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Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility

Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the skin. Most cases are due to dominantly acting mutations in either keratin 14 (K14) or K5, the type I and II intermediate filament (IF) proteins tasked with...

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Detalhes bibliográficos
Main Authors: Coulombe, Pierre A., Kerns, Michelle L., Fuchs, Elaine
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2701872/
https://ncbi.nlm.nih.gov/pubmed/19587453
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI38177
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