Characterization of the causative genes and investigation of their role in the development of two new forms of muscular dystrophy in the French-Canadian population.

致病基因的特征及其在法裔加拿大人群中两种新型肌营养不良症发展中的作用的研究。

• 批准号: 206226
• 负责人: Tetreault Martine
• 金额: $ 7.65万
• 依托单位: Centre hospitalier de l'Universit de Montral (CHUM)
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2009
• 资助国家: 加拿大
• 起止时间: 2009-10-01 至 2012-10-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=206226&lang=en
• 关键词: Genetic; Integrin; Muscular Dystrophies; Mutations Characterization; Proteomics; Rearrangement

Advances in genetics lead to the identification of a growing number of distinct recessive muscular dystrophies (MD) and their causal genes. These new discoveries allow better diagnosis and genetic counseling and open the way to a specific understanding of

遗传学的进步导致越来越多的不同的隐性肌营养不良症(MD)及其致病基因被发现。这些新发现允许更好的诊断和遗传咨询，并为具体了解