MOLECULAR GENETIC BASIS OF WILLIAM'S SYNDROME
MOLECULAR GENETIC BASIS OF WILLIAM'S SYNDROME
批准号:
8174457
负责人:
JULIE RUTH KORENBERG
金额:
$1.2万
依托单位国家:
美国
项目类别:
财政年份:
2009
资助国家:
美国
项目状态:
已结题
起止时间:
2009-12-01 至 2010-11-30
关键词:
BehavioralComputer Retrieval of Information on Scientific Projects DatabaseConsultationsDefectFundingGenesGoalsGrantInstitutionMapsMolecular GeneticsNeurocognitivePhenotypeResearchResearch PersonnelResourcesSourceSyndromeUnited States National Institutes of HealthVariantWilliams Syndromebaseprograms
中文摘要
该子项目是利用
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来源获得主要资金,
因此可以在其他CRISP条目中表示。列出的机构是
中心,不一定是研究者的机构。
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。
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 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.
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会议论文
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