Article
Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing
10 Jul 2012
Abstract excerpt
BACKGROUND: Mitochondrial diseases are clinically and genetically heterogeneous, with variable penetrance, expressivity, and differing age of onset. Disease-causing point mutations and large deletions in the mitochondrial genome often exist in a heteroplasmic state. Current molecular analyses require multiple different and complementary methods for the detection and quantification of mitochondrial DNA (mtDNA)...
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