课题基金 / 基金详情

GENETIC MUTATIONS IN PATIENTS WITH PRIMARY CILIARY DYSKINESIA AND FAMILY

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：
7625498
负责人：
Michael R Knowles
金额：
$0.53万
依托单位：
UNIV OF NORTH CAROLINA CHAPEL HILL
依托单位国家：
美国
项目类别：
财政年份：
2006
资助国家：
美国
项目状态：
已结题
起止时间：
2006-12-01 至 2007-11-30
来源：
https://reporter.nih.gov/project-details/7625498
关键词：
ClinicalComputer Retrieval of Information on Scientific Projects DatabaseDiagnostic testsDiseaseDyskinetic syndromeFamilyFundingGene MutationGrantInstitutionLeadPatientsPrimary Ciliary DyskinesiasPurposeResearchResearch PersonnelResourcesSourceUnited States National Institutes of Healthnovel diagnosticsresearch study

项目摘要

项目成果

Michael R Knowles的其他基金

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中文摘要
翻译
这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 这项研究的目的是描述原发性睫状肌运动障碍(PCD)患者的临床表现，并确定与该疾病相关的基因突变。这项研究可能导致对原发性纤毛运动障碍的新的诊断测试和更好的治疗。
英文摘要
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.
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会议论文
Molecular Phenotypes for Cystic Fibrosis Lung Disease
GENETIC DISORDERS OF MUCOCILIARY CLEARANCE: RARE DISEASES: PCD, CF, & PHA
RARE GENETIC DISORDERS OF THE AIRWAYS
Molecular Phenotypes for Cystic Fibrosis Lung Disease