Article
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.
Nucleic acids research - 15 Oct 2000
van Den Bosch B J, de Coo R F, Scholte H R, Nijland J G, van Den Bogaard R, de Visser M, de Die-Smulders C E, Smeets H J
Abstract excerpt
In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most pathogenic mtDNA mutations are heteroplasmic, resulting in heteroduplexes after PCR amplification of mtDNA. To detect these heteroduplexes, we used the technique of denaturing high performance liquid chromatography (DHPLC). The complete mitochondrial genome...
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