Article
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.
Human mutation - 1 Jun 2013
Tang Sha, Wang Jing, Zhang Victor Wei, Li Fang-Yuan, Landsverk Megan, Cui Hong, Truong Cavatina K, Wang Guoli, Chen Li Chieh, Graham Brett, Scaglia Fernando, Schmitt Eric S, Craigen William J, Wong Lee-Jun C
Abstract excerpt
The diagnosis of mitochondrial disorders is challenging because of the clinical variability and genetic heterogeneity. Conventional analysis of the mitochondrial genome often starts with a screening panel for common mitochondrial DNA (mtDNA) point mutations and large deletions (mtScreen). If negative, it has been traditionally followed by Sanger sequencing of the entire mitochondrial genome (mtWGS). The recently...
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