MOLECULAR GENETIC BASIS OF WILLIAM'S SYNDROME

威廉综合征的分子遗传学基础

• 批准号: 7952198
• 负责人: JULIE RUTH KORENBERG
• 金额: $ 1.21万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 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/7952198
• 关键词: Behavioral; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Consultations; Defect; Funding; Genes; Goals; Grant; Institution; Maps; Molecular Genetics; Neurocognitive; Phenotype; Research; Research Personnel; Resources; Source; Syndrome; United States National Institutes of Health; Variant; Williams Syndrome; base; programs

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 overall goals of this program project are to define the genes underlying the defects in Williams syndrome (WMS), with an emphasis on those genes that might correlate with the behavioral and neurocognitive abnormalities. The goals of this project are to define a phenotypic map of Williams syndrome, i.e., to define the minimally deleted region and to detect, clone and characterize genes which are located in this region and which may correlate with variations in phenotype characterized by Projects I-III and interpreted in consultation with Project IV of this Program Project proposal.

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所在的机构。 该项目的总体目标是确定威廉姆斯综合征（WMS）缺陷的潜在基因，重点是那些可能与行为和神经认知异常相关的基因。 该项目的目标是定义威廉姆斯综合征的表型图谱，即，确定最小缺失区域，并检测、克隆和表征位于该区域的基因，这些基因可能与项目I-III表征的表型变异相关，并与本计划项目建议书的项目IV协商解释。