课题基金 / 基金详情

MOLECULAR ANALYSIS AND CLONING OF THE AARSKOG SYNDROME (FGDY) GENE LOCUS

MOLECULAR ANALYSIS AND CLONING OF THE AARSKOG SYNDROME (FGDY) GENE LOCUS
AARSKOG 综合征 (FGDY) 基因座的分子分析和克隆
批准号：
6244580
负责人：
JEROME L. GORSKI
金额：
$2.22万
依托单位：
UNIVERSITY OF MICHIGAN AT ANN ARBOR
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
项目状态：
已结题
起止时间：
1997-02-20 至 1997-11-30
来源：
https://reporter.nih.gov/project-details/6244580
关键词：
clinical research congenital oral /facial /cranial defect congenital reproductive system disorder family genetics gene mutation genetic disorder genetic mapping human genetic material tag molecular cloning single strand conformation polymorphism

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中文摘要
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英文摘要
The goal of this project is to elucidate the structure-function correlations of the FGD1 gene, the gene responsible for Faciogenital Dysplasia (FGDY). DNA samples obtained from affected FGDY patients are analyzed by single-strand conformational (SSCP) analysis to identify mutations responsible for the disease.
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ANALYSIS AND CLONING OF A DEVELOPMENTAL SKIN LOCUS