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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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Human Genetics • Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4830863/
https://ncbi.nlm.nih.gov/pubmed/26432462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-015-0310-9
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