Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
出版年份 2011 全文链接
标题
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 21, Issue 1, Pages 66-75
出版商
Oxford University Press (OUP)
发表日期
2011-09-22
DOI
10.1093/hmg/ddr438
参考文献
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- The Sugar Ring of the Nucleoside Is Required for Productive Substrate Positioning in the Active Site of Human Deoxycytidine Kinase (dCK): Implications for the Development of dCK-Activated Acyclic Guanine Analogues
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- Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
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