Article
Rapid identification of unknown heteroplasmic mitochondrial DNA mutations with mismatch-specific surveyor nuclease.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2009
Bannwarth Sylvie, Procaccio Vincent, Paquis-Flucklinger Véronique
Abstract excerpt
Identification of mitochondrial DNA (mtDNA) mutations is essential for diagnosis and genetic counseling of mitochondrial diseases. In this chapter, we describe a strategy for the rapid identification of heteroplasmic mtDNA mutations that can be used routinely in molecular genetic laboratories. This protocol involves the following three steps: (i) PCR amplification of the entire human mitochondrial genome with 17...
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