Article
Mitochondrial DNA mutation detection by electrospray mass spectrometry.
Clinical chemistry - 1 Feb 2007
Jiang Yun, Hall Thomas A, Hofstadler Steven A, Naviaux Robert K
Abstract excerpt
BACKGROUND: Mitochondrial DNA (mtDNA) mutations cause a large spectrum of clinically important neurodegenerative, neuromuscular, cardiovascular, and endocrine disorders. We describe the novel application of electrospray ionization Fourier transform ion cyclotron resonance mass spectrometry (ESI-FTICR MS) to the rapid and accurate identification of pathogenic mtDNA variants. METHODS: In a blinded study, we used...
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