載入...
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
Among inherited retinal dystrophies, autosomal recessive retinitis pigmentosa (arRP) is the most genetically heterogenous condition with 32 genes currently known that account for ∼60 % of patients. Molecular diagnosis thus requires the tedious systematic sequencing of 506 exons. To rapidly identify...
Na minha lista:
| Main Authors: | , , , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2011
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3230368/ https://ncbi.nlm.nih.gov/pubmed/21792230 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.133 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|