LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS

LESCH-NYHAN 综合征及相关代谢紊乱

• 批准号: 7950904
• 负责人: WILLIAM L. NYHAN
• 金额: $ 0.11万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7950904
• 关键词: Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Disease; Enzyme Gene; Funding; Grant; HPRT1 gene; Heterozygote Detection; Hyperuricemia; Institution; Lesch-Nyhan Syndrome; Lethal Genes; Link; Metabolic; Metabolic Diseases; Mutation; Nature; Patients; Phenotype; Research; Research Personnel; Resources; Source; United States National Institutes of Health; Variant; metabolic abnormality assessment; molecular site; purine metabolism; transmission process

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. To study metabolism of purines in patients with hyperuricemia who have the Lesch-Nyhan syndrome and other disorders. To characterize variant HGPRT enzymes, genes and the phenotypes of patients in whom they are found. To characterize the nature of metabolic abnormality and its molecular site in patients with hyperuricemias other than those involving HGPRT and to study transmission of Lesch-Nyhan syndrome and the mutation rate for x-linked lethal gene using heterozygote detection.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 研究患有Lesch-Nyhan综合征和其他疾病的高尿酸血症患者的嘌呤代谢。为了表征变异的HGPRT酶，基因和发现的患者的表型。表征除涉及HGPRT的患者以外的多尿症患者中代谢异常的性质及其分子部位的性质，并研究了使用杂合子检测来研究Lesch-nyhan综合征的传播以及X连锁致死基因的突变率。