Mutation analysis of novel candidate genes for X-linked Charcot Marie Tooth (CMTX3) neuropathy.

X连锁夏科玛丽图斯（CMTX3）神经病的新候选基因的突变分析。

• 批准号: nhmrc : 512443
• 负责人: A/Pr Marina Kennerson
• 金额: $ 12.76万
• 依托单位: The University of Sydney
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2008
• 资助国家: 澳大利亚
• 起止时间: 2008-01-01 至 2009-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/mutation-analysis-novel-cmtx3-neuropathy/100529
• 关键词: Mutation; analysis; novel; candidate; genes

Our goal is to explore how peripheral nerves degenerate by identifying the gene mutation causing an X linked form of Charcot Marie Tooth neuropathy (CMTX3). Using bioinformatic resources and state of the art gene mutation scanning we will complete characterisation and systematic screening of candidate genes and novel transcripts in the region. Discovery of this gene will provide a means to determine mechanisms causing axonal degeneration and lead to targeted therapeutic treatment strategies.

我们的目标是通过识别导致 X 连锁腓骨肌萎缩症神经病 (CMTX3) 的基因突变来探索周围神经如何退化。利用生物信息资源和最先进的基因突变扫描，我们将完成该区域候选基因和新转录本的表征和系统筛选。该基因的发现将为确定导致轴突变性的机制提供一种手段，并导致有针对性的治疗策略。