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文献和实验Measurement of Mitochondrial DNA Copy Number
disorders characterized by a significant reduction in mtDNA content. These genes include POLG , DGUOK , TK2 , TYMP , MPV17 , SUCLA2 , SUCLG1 , RRM2B , and C10orf2 , all nine genes have mutations reported to cause various forms of MDDSs. In this chapter
Real‐Time Quantitative PCR Analysis of Mitochondrial DNA Content
. The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are autosomal recessive disorders caused by molecular defects in nuclear genes, and characterized by a reduction in mtDNA content. To date, mutations in at least nine genes (POLG , DGUOK , TK2 , TYMP , MPV17
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