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

✍ Scribed by Andrew Wyn Thomas; Ruth Morgan; Mary Sweeney; Alan Rees; John Alcolado

Publisher: Springer
Year: 1994
Tongue: English
Weight: 347 KB
Volume: 94
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00206954

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✦ Synopsis

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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