Segmental duplication and deletion of genes involved in optic nerve head development and function

参与视神经乳头发育和功能的基因的节段重复和缺失

• 批准号: 172200
• 负责人: Lehmann Ordan J
• 金额: $ 50.54万
• 依托单位: University of Alberta
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2008
• 资助国家: 加拿大
• 起止时间: 2008-09-01 至 2012-09-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=172200&lang=en
• 关键词: Blindness; Genetics; Glaucoma; Phenotype; Transgenesis; Translational Research

Until recently the contribution of chromosomal anomalies to human disease was under-appreciated. Although chromosomal duplications and deletions were known to occur, these were considered relatively rare (e.g. Down's syndrome). Advent of new approaches, p

直到最近，人们还没有充分认识到染色体异常对人类疾病的影响。虽然已知有染色体复制和缺失，但这些被认为是相对罕见的(例如唐氏综合症)。新方法的出现，p