載入...
Desmin splice variants causing cardiac and skeletal myopathy
Desmin myopathy is a hereditary or sporadic cardiac and skeletal myopathy characterised by intracytoplasmic accumulation of desmin reactive deposits in muscle cells. We have characterised novel splice site mutations in the gene desmin resulting in deletion of the entire exon 3 during the pre-mRNA sp...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMJ Group
2000
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734475/ https://ncbi.nlm.nih.gov/pubmed/11073539 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.11.851 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|