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POLR3-related leukodystrophy: From bench to bedside

POLR3-related leukodystrophy: From bench to bedside
POLR3 相关脑白质营养不良：从实验室到临床
批准号：
333027
负责人：
Bernard Geneviève
金额：
$7.29万
依托单位：
Research Institute of the McGill University Health Centre
依托单位国家：
加拿大
项目类别：
Operating Grants
财政年份：
2015
资助国家：
加拿大
项目状态：
已结题
起止时间：
2015-05-01 至 2016-05-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=333027&lang=en
关键词：
4h Leukodystrophy Hypomyelination Magnetic Resonance Imaging Mouse Model Natural History Study Next Generation Sequencing Pathophysiological Mechanisms Polr3-Related Leukodystrophy Polymerase Iii Rna Sequenging

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Leukodystrophies are a group of degenerative diseases characterized by involvement of the white matter of the brain. They are divided into hypomyelinating (i.e. lack of myelin formation) and non-hypomyelinating (i.e. abnormal myelin maintenance) based on
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