LESCH-NYHAN SYNDROME AND RELATED METABOLIC DISORDERS

LESCH-NYHAN 综合征及相关代谢紊乱

• 批准号: 7606489
• 负责人: WILLIAM L. NYHAN
• 金额: $ 0.12万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-12-01 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7606489
• 关键词: Computer Retrieval of Information on Scientific Projects Database; Disease; Enzyme Gene; Funding; Grant; HPRT1 gene; Heterozygote Detection; Hyperuricemia; Hypoxanthine Phosphoribosyltransferase; Institution; Lesch-Nyhan Syndrome; Lethal Genes; Link; Metabolic; Metabolic Diseases; Mutation; Nature; Patients; Phenotype; Rate; 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.

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