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Mutations and polymorphisms in mtDNA detected by “Surveyor Nuclease” in children with manifestations of mitochondrial encephalomyopathies

✍ Scribed by J. Pilch; M. Asman; E. Jamroz; M. Kajor; E. Kotrys- Puchalska; M. Goss; M. Krzak; M. Tarnowski; J. Witecka; J. Gmiński; A.L. Sieroń; E. Marszał


Book ID
114359212
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
46 KB
Volume
12
Category
Article
ISSN
1090-3798

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Molecular analysis of mitochondrial DNA (mtDNA) is a critical step in diagnosis and genetic counseling of respiratory chain defects. No fast method is currently available for the identification of unknown mtDNA point mutations. We have developed a new strategy based on complete mtDNA PCR amplificati