Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene

Epidermolysis bullosa simplex (EBS), an inherited genetic disorder, is most often caused by a dominant-negative mutation in either the keratin 5 (KRT5) or the keratin 14 (KRT14) gene. These keratin mutants result in a weakened cytoskeleton and cause extensive cytolysis. It is important to analyze th...

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Detalles Bibliográficos
Autores principales: Cho, Jae-We, Ryu, Han-Won, Kim, Sung-Ae, Nakano, Hajime, Lee, Kyu-Suk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252672/
https://www.ncbi.nlm.nih.gov/pubmed/25473227
http://dx.doi.org/10.5021/ad.2014.26.6.739

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