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INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV

INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV
粘脂贮积症 IV 的病因学调查
批准号：
2579613
负责人：
E GOLDIN
金额：
$0.0万
依托单位：
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/2579613
关键词：
biomarker cellular pathology chloroquine diagnosis design /evaluation drug hypersensitivity fibroblasts gene complementation gene mutation genetic disorder diagnosis genetic library human tissue inborn lipid storage disorder inborn metabolism disorder diagnosis molecular cloning molecular pathology mucopolysaccharidosis type IV pathologic process phenotype prenatal diagnosis tissue /cell culture transfection

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英文摘要
We have developed and validated a novel test for the prenatal diagnosis of mucolipidosis IV. The phenotypic alteration that permitted the development of this test is being used as a marker for the functional cloning of the gene that is mutated in mucolipidosis IV. In addition, we have designed a selection procedure for ML4 cells based on their increased sensitivity to chloroquine over normal control fibroblasts. This procedure will allow us to rapidly isolate complementing genes in ML4 cells transfected with DNA libraries. The increase in chloroquine sensitivity also provides a clue to the nature of the abnormal cell biology in patients with ML4.
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INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV
INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV
INVESTIGATION OF THE ETIOLOGY OF MUCOLIPIDOSIS IV
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