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Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

✍ Scribed by Sozen, Mert; Whittall, Roslyn; Humphries, Steve E.


Book ID
118424320
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
184 KB
Volume
5
Category
Article
ISSN
1567-5688

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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