載入...
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, sc...
Na minha lista:
| 發表在: | F1000Res |
|---|---|
| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
F1000Research
2016
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4926754/ https://ncbi.nlm.nih.gov/pubmed/27408687 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.8380.2 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|