Comprehensive 1-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing
نویسندگان
چکیده
BACKGROUND: Mitochondrial diseases are clinically and genetically heterogeneous, with variable penetrance, expressivity, and differing age of onset. Diseasecausing 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) mutations. We developed a novel approach to analyze the mtDNA in 1 step.
منابع مشابه
Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing.
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 mitochondri...
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تاریخ انتشار 2012