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

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中文摘要
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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