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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...

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Detalles Bibliográficos
Publicado en:Med J Islam Repub Iran
Main Authors: Khani, Pouria, Farokh Forghani, Siamak, Ataei Kachoei, Zohreh, Zekri, Ali, Ghazi, Farideh
Formato: Artigo
Idioma:Inglês
Publicado: Iran University of Medical Sciences 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7456439/
https://ncbi.nlm.nih.gov/pubmed/32884918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.34171/mjiri.34.43
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