Article
Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation.
The Journal of molecular diagnostics : JMD - 1 May 2006
Singh Rinki, Ellard Sian, Hattersley Andrew, Harries Lorna W
Abstract excerpt
Maternally inherited diabetes and deafness and mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes result from the 3243A>G mitochondrial point mutation. Current methods to detect the presence of the mutation have limited sensitivity and may lead to potential misclassificati...
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