Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype–phenotype correlation

Epidermolysis bullosa simplex (EBS) is a hereditary genodermatosis characterised by trauma-induced intraepidermal blistering of the skin. EBS is mostly caused by mutations in the KRT5 and KRT14 genes. Disease severity partially depends on the affected keratin type and may be modulated by mutation ty...

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Detalles Bibliográficos
Autores principales: Wertheim-Tysarowska, K., Ołdak, M., Giza, A., Kutkowska-Kaźmierczak, A., Sota, J., Przybylska, D., Woźniak, K., Śniegórska, D., Niepokój, K., Sobczyńska-Tomaszewska, A., Rygiel, A. M., Płoski, R., Bal, J., Kowalewski, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830863/
https://www.ncbi.nlm.nih.gov/pubmed/26432462
http://dx.doi.org/10.1007/s13353-015-0310-9

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