The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis

Thomas, Andrew Wyn, Morgan, Ruth, Sweeney, Mary, Rees, Alan and Alcolado, John 1994. The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis. Human Genetics 94 (6) , pp. 621-623. 10.1007/BF00206954

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General)
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	19 Mar 2016 23:02
URI:	https://orca.cardiff.ac.uk/id/eprint/36151

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