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The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis |
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| Authors: | Andrew Wyn Thomas Ruth Morgan Mary Sweeney Alan Rees John Alcolado |
| Affiliation: | (1) Department of Medicine, University of Wales College of Medicine, CF4 4XN Heath Park, Cardiff, UK;(2) Department of Neurology, Institute of Neurology, Queen Square, London, UK |
| Abstract: | A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis. |
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