The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis
- 1 December 1994
- journal article
- Published by Springer Nature in Human Genetics
- Vol. 94 (6) , 621-623
- https://doi.org/10.1007/bf00206954
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.Keywords
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