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Novel and Recurrent Mutations in Keratin 1 cause Epidermolytic Ichthyosis (EI) and Palmoplantar Keratoderma

Mutations in keratin genes underlie a variety of epidermal and non-epidermal cell-fragility disorders and are the genetic basis of many inherited palmoplantar keratodermas. Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene (KRT1). Epidermol...

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Detalhes bibliográficos
Publicado no:Clin Exp Dermatol
Main Authors: Smith, FJD, Kreuser-Genis, IM, Jury, CS, Wilson, NJ, Terron-Kwiatowski, A, Zamiri, M
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7116359/
https://ncbi.nlm.nih.gov/pubmed/30288772
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ced.13800
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