載入...
Human Equilibrative Nucleoside Transporter-3 (hENT3) Spectrum Disorder Mutations Impair Nucleoside Transport, Protein Localization, and Stability
Accumulating evidence reveals that sole mutations in hENT3 cause a spectrum of human genetic disorders. Among these include H syndrome, characterized by scleroderma, hyperpigmentation, hypertrichosis, hepatomegaly, cardiac abnormalities and musculoskeletal deformities, pigmented hypertrichotic derma...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Society for Biochemistry and Molecular Biology
2010
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2934698/ https://ncbi.nlm.nih.gov/pubmed/20595384 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.109199 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|