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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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| 出版年: | Clin Exp Dermatol |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | 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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