The Molecular Basis of Noonan Syndrome-Associated RAF1 Mutations

努南综合征相关 RAF1 突变的分子基础

• 批准号: 184464
• 负责人: Wu Xue
• 金额: $ 7.65万
• 依托单位: University of Toronto
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2008
• 资助国家: 加拿大
• 起止时间: 2008-10-01 至 2011-10-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=184464&lang=en
• 关键词: Gene Knock-In Mouse Model; Germline Mutation; Hypertrophic Cardiomyopathy; Noonan Syndrome; Raf1; Ras-Raf-Mapk Pathway; Signal Transduction

Noonan syndrome (NS) is a relatively common congenital genetic disease with an incidence of approximately 1 in 1,000 to 2,500 children. The principle symptoms include short stature, unusual facial features, congenital heart diseases and cognitive defects.

努南综合征（NS）是一种相对常见的先天性遗传病，发病率约为1/1000至2,500名儿童。主要症状包括身材矮小，不寻常的面部特征，先天性心脏病和认知缺陷。