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The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and
A W Thomas1, R Morgan, M Sweeney
1Department of Medicine, University of Wales College of Medicine, Health Park, Cardiff, UK.
Human Genetics
|December 1, 1994
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.