Genomewide Association Studiesand Human Disease

摘要：

FOR 20 YEARS, GENETIC LINKAGE COMBINED WITH POSITIONAL CLONINGhas offered a rational and increasingly straightforward route to finding gene mutations that lead to monogenic disease, such as cystic fibrosis and Hunting-tons disease (see the Glossary). With a few important exceptions, these searches have led to mutations that alter the amino acid sequence of a protein and that enor-mously increase the risk of disease.

作者: John Hardy Andrew Singleton

作者单位: Institute of Neurology, University College London, London The Laboratory of Neurogenetics, Bethesda, MD

会议类型: 国际会议

会议名称: 中国科协第199次青年科学家论坛

会议地点: 南京

会议语种:英文

页码: 64-73

在线出版日期: 2009-09-11（万方平台首次上网日期，不代表论文的发表时间）