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MOLECULAR GENETICS OF SJOGREN LARRSON SYNDROME

MOLECULAR GENETICS OF SJOGREN LARRSON SYNDROME
干燥综合征的分子遗传学
批准号：
6245989
负责人：
WILLIAM B. RIZZO
金额：
$2.76万
依托单位：
VIRGINIA COMMONWEALTH UNIVERSITY
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：
1997-01-20 至 1997-11-30
来源：
https://reporter.nih.gov/project-details/6245989
关键词：
aldehyde dehydrogenases clinical research congenital ichthyosis gene expression gene mutation human subject mental retardation molecular cloning molecular genetics phenotype spastic paralysis

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中文摘要
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英文摘要
Previous research efforts have resulted in purifying the the human fatty aldehyde dehydrogenase enzyme and efforts are now directed to clone the gene. The purpose of this study is to correlate the specific mutations that cause SLS with the phenotypic expression of this disease.
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Defining ichthyosis in Sjogren-Larsson syndrome for clinical trial preparedness
Sjogren-Larsson Syndrome: a Longitudinal Study of Natural History
Sterol and Isoprenoid Diseases Consortium
Sjogren-Larsson Syndrome: a Longitudinal Study of Natural History
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