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A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis
Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only four muta...
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| 主要な著者: | , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Blackwell Publishing Ltd
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3744379/ https://ncbi.nlm.nih.gov/pubmed/23957016 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.6 |
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