A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia
Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disea...
| 主要な著者: | , , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Medical Journals Sweden
2017-06-01
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| シリーズ: | Acta Dermato-Venereologica |
| 主題: | |
| オンライン･アクセス: |
https://www.medicaljournals.se/acta/content/html/10.2340/00015555-2715
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