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Article

Quantification of heteroplasmic mitochondrial DNA mutations for DNA samples in the low picogram range by nested real-time ARMS-qPCR.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Jun 2011

Biffi Stefania, Bortot Barbara, Carrozzi Marco, Severini Giovanni Maria

Abstract excerpt

In many mitochondrial diseases, different clinical manifestations are related to tissue-specific distribution of mutated mitochondrial DNA (mtDNA). In this study, we describe an assay for the determination of mutated mtDNA copy number in small clinical samples, using standard polymerase chain reaction (PCR) followed by SYBR Green real-time allelic-specific PCR [amplification refractory mutation...

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PMID: 21532488
DOI: 10.1097/PDM.0b013e3181efe2c6

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