載入...
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family
PURPOSE: To identify the genetic defect of osteogenesis imperfecta (OI) type I in a large Chinese family of five generations. METHODS: Seventeen members in an OI type I family were recruited, and clinical examinations were performed. All members were genotyped with microsatellite markers at loci ass...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Molecular Vision
2007
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2642918/ https://ncbi.nlm.nih.gov/pubmed/17392686 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|