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ANALYSIS AND CLONING OF A DEVELOPMENTAL SKIN LOCUS

ANALYSIS AND CLONING OF A DEVELOPMENTAL SKIN LOCUS
皮肤发育位点的分析和克隆
批准号：
6113504
负责人：
JEROME L. GORSKI
金额：
$0.02万
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：
1998
资助国家：
美国
项目状态：
已结题
起止时间：
1998-12-01 至 1999-11-30
来源：
https://reporter.nih.gov/project-details/6113504
关键词：
developmental genetics gene expression gene mutation human genetic material tag molecular cloning neural crest pigments sex linked trait single strand conformation polymorphism skin disorder

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中文摘要
翻译
本项目的目标是定位克隆和表征色素失禁1型（IP1）基因，一个X连锁的显性基因参与神经嵴分化。 通过单链构象（SSCP）分析研究从受影响的IP患者获得的DNA样品，以鉴定导致疾病的突变。
英文摘要
The goal of this project is to positionally clone and characterize the incontinentia pigmenti type 1 (IP1) gene, an X-linked dominant gene involved in neural crest differentiation. DNA samples obtained from affected IP patients are studied by single-strand conformational (SSCP) analysis to identify mutations responsible for the disease.
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