CLINICAL AND MOLECULAR ANALYSIS OF NEUROMUSCULAR DISEASE

神经肌肉疾病的临床和分子分析

• 批准号: 7718482
• 负责人: KATHRYN J. SWOBODA
• 金额: $ 0.03万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-03-01 至 2008-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7718482
• 关键词: Affect; Biochemical; Candidate Disease Gene; Clinical; Computer Retrieval of Information on Scientific Projects Database; Disease; Family; Functional disorder; Funding; Gene Mutation; Genetic; Goals; Grant; Human; Institution; Molecular Analysis; Muscle; Mutation; Neuromuscular Diseases; Patients; Research; Research Personnel; Resources; Source; Tissues; United States National Institutes of Health

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. We are conducting candidate gene mutation searches as well as linkage studies in families sufficiently large to establish genetic loci. Objectives are to 1) identify genetic mutations responsible for human neuromuscular disease, 2) correlate these mutations with specific biochemical and pathological changes in the muscles and other affected tissues of patients with these diseases with the overall goal being to understand the pathophysiology of neuromuscular disease

这个子项目是众多研究子项目之一