Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 彭智培教授郭坤豪教授 (眼科及视觉科学学系) (眼科及视觉科学学系) |
| 林顺潮教授 (外科学系) |
| 陈伟民教授 (眼科及视觉科学学系) |
| 包立怡教授 (药剂学院) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1016/S0009-8981(01)00674-X |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/5WOS source URL
其它资讯
摘要Background: At least 1 million people worldwide have retinitis pigmentosa (RP), making it relatively common among the inherited forms of blindness. Mutations in many genes may cause RP. The most common known mutation, Pro347Leu in rhodopsin, is found in no more than about 1% of unrelated patients, implying the impracticality of a diagnostic test which would screen only for a few, common mutation sites. Conclusions: Ongoing discovery and study of RP genes makes it feasible to consider a molecular diagnostic test which would screen coding regions of all known RP genes by a mutation detection method such as conformation-sensitive gel electrophoresis followed by sequencing. The parallel development of RP genetic knowledge and treatments such as gene therapy will make such tests both possible and necessary. (C) 2001 Elsevier Science B.V. All rights reserved.
着者Yeung KY, Baum L, Chan WM, Lam DSC, Kwok AKH, Pang CP
会议名称Chinese Congress of Clinical Chemistry and Laboratory Medicine
会议开始日11.06.2000
会议完结日1http://aims.cuhk.edu.hk/converis/portal/Publication/5.06.2000
会议地点HONG KONG
期刊名称Clinica Chimica Acta
出版年份2001
月份11
日期1
卷号313
期次1-2
出版社ELSEVIER SCIENCE BV
页次209 - 21http://aims.cuhk.edu.hk/converis/portal/Publication/5
国际标準期刊号0009-8981
电子国际标準期刊号1873-3492
语言英式英语
关键词diagnosis; gene therapy; review; rhodopsim; RP
Web of Science 学科类别Medical Laboratory Technology; MEDICAL LABORATORY TECHNOLOGY
