GENETIC MUTATIONS IN PATIENTS WITH PRIMARY CILIARY DYSKINESIA AND FAMILY

原发性纤毛运动障碍患者及其家族的基因突变

• 批准号: 7716746
• 负责人: Michael R Knowles
• 金额: $ 0.01万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-04-02 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7716746
• 关键词: Clinical; Computer Retrieval of Information on Scientific Projects Database; Diagnostic tests; Disease; Dyskinetic syndrome; Family; Funding; Gene Mutation; Grant; Institution; Lead; Patients; Primary Ciliary Dyskinesias; Purpose; Research; Research Personnel; Resources; Source; United States National Institutes of Health; novel diagnostics; research study

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of the research study is to characterize the clinical presentation of patients with Primary Ciliary Dyskinesia (PCD), and to identify the genetic mutations associated with the disease. This research may lead to new diagnostic tests for, and better treatment of primary cilary dyskinesia.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 本研究的目的是描述原发性纤毛运动障碍（PCD）患者的临床表现，并确定与该疾病相关的基因突变。这项研究可能会导致新的诊断测试，并更好地治疗原发性纤毛运动障碍。