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MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE

MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENE
门克斯综合征基因的分子生物学
批准号：
6244555
负责人：
THOMAS W GLOVER
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/6244555
关键词：
Menkes' syndrome human genetic material tag molecular biology molecular cloning nucleic acid sequence

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英文摘要
The purpose of this study is to clone and characterize the gene responsible for Menke's syndrome, an X-linked recessive disorder of copper neurologic impairment with an incidence as high as 1 in 40,000 births. Our cloning strategy has been based on the physical translocation breakpoint interrupting the MNK gene. We have recently identified and cloned the gene and are currently characterizing the gene and protein product at all levels.
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