載入...
The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells
The three-base-pair deletion c.1521_1523delCTT (p.Phe508del, F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR) is the most frequent disease-causing lesion in cystic fibrosis (CF). The CFTR gene encodes a chloride and bicarbonate channel at the apical membrane of epithelial c...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2014
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3992571/ https://ncbi.nlm.nih.gov/pubmed/24105369 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.209 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|