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LSM7: a novel genetic variant in ultra-rare cases of leukodystrophy

LSM7: a novel genetic variant in ultra-rare cases of leukodystrophy
LSM7：极其罕见的脑白质营养不良病例中的一种新型遗传变异
批准号：
406311
负责人：
Derksen Alexa R
金额：
$1.27万
依托单位：
McGill University
依托单位国家：
加拿大
项目类别：
Studentship Programs
财政年份：
2018
资助国家：
加拿大
项目状态：
已结题
起止时间：
2018-12-01 至 2019-12-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=406311&lang=en
关键词：
Degenerative Neurogenetic Diseases Genetics Leukodystrophy Lsm Proteins Lsm1-7 Lsm2-8 Lsm7 Mrna Decay Pediatric Leukodystrophies Splicing

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英文摘要
Leukodystrophies (LD) are a diverse group of genetically-determined neurodegenerative disorders that affect the central nervous system. We recently uncovered a novel gene, LSM7 which has been implicated in ultra-rare cases of non-hypomyelinating leukodyst
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