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Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing 被引量:1
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作者 Rachel Brockhage Jesse Slone +3 位作者 Zeqian Ma Madhuri R.Hegde C.AlexANDer Valencia Taosheng Huang 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2018年第6期333-335,共3页
Diagnosis of mitochondrial DNA(mt DNA)disorders has traditionally been focused on the presence of point mutations and large deletions.However,deviations in mitochondrial abundance or mt DNA copy number can also be a... Diagnosis of mitochondrial DNA(mt DNA)disorders has traditionally been focused on the presence of point mutations and large deletions.However,deviations in mitochondrial abundance or mt DNA copy number can also be associated with many physiological and pathological conditions(Bai and Wong,2005). 展开更多
关键词 WGS Validation of the diagnostic potential of mtdna copy number derived from whole genome sequencing DNA PCR
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