| Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees | |
| Chen, Xue; Sheng, Xunlun; Liu, Yani; Li, Zili; Sun, Xiantao; Jiang, Chao; Qi, Rui; Yuan, Shiqin; Wang, Xuhui; Zhou, Ge | |
| 刊名 | JOURNAL OF TRANSLATIONAL MEDICINE
 |
| 2018 | |
| 卷号 | 16 |
| 关键词 | Retinitis pigmentosa Genetic heterogeneity Next generation sequencing Mutation OFDI C8ORF37 TULP1 RP1 Consanguinity |
| ISSN号 | 1479-5876 |
| URL标识 | 查看原文 |
| 语种 | 英语 |
| 内容类型 | 期刊论文 |
| URI标识 | http://www.corc.org.cn/handle/1471x/3607109 |
| 专题 | 复旦大学上海医学院 |
| 推荐引用方式 GB/T 7714 | Chen, Xue,Sheng, Xunlun,Liu, Yani,et al. Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees[J]. JOURNAL OF TRANSLATIONAL MEDICINE,2018,16. |
| APA | Chen, Xue.,Sheng, Xunlun.,Liu, Yani.,Li, Zili.,Sun, Xiantao.,...&Zhao, Chen.(2018).Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.JOURNAL OF TRANSLATIONAL MEDICINE,16. |
| MLA | Chen, Xue,et al."Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees".JOURNAL OF TRANSLATIONAL MEDICINE 16(2018). |
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