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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...
Zapisane w:
| Wydane w: | J Appl Genet |
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| Główni autorzy: | , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Springer Berlin Heidelberg
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | 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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