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：
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
项目类别：
财政年份：
2008
资助国家：
美国
项目状态：
已结题
起止时间：
2008-04-02 至 2008-05-31
来源：
https://reporter.nih.gov/project-details/7716746
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的研究机构。 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。
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