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Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex
Background: Epidermolysis bullosa simplex is a hereditary skin disorder caused by mutations in several genes such as KRT5 and KRT14 . Skin fragility in basal keratinocytes presence regions led to the cytolysis of epidermis and blistering. Aim of this study was to detect the molecular defects in KRT5...
Autores principales: | Khani, Pouria, Farokh Forghani, Siamak, Ataei Kachoei, Zohreh, Zekri, Ali, Ghazi, Farideh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Iran University of Medical Sciences
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7456439/ https://www.ncbi.nlm.nih.gov/pubmed/32884918 http://dx.doi.org/10.34171/mjiri.34.43 |
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