Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations
出版年份 2016 全文链接
标题
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 91, Issue 5, Pages 690-696
出版商
Wiley
发表日期
2016-08-30
DOI
10.1111/cge.12855
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
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- CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
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- Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing
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