Multiplex Mutation Screening by Mass Spectrometry
نویسندگان
چکیده
منابع مشابه
Mitochondrial DNA mutation detection by electrospray mass spectrometry.
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 blinde...
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ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2011
ISSN: 1525-1578
DOI: 10.1016/j.jmoldx.2011.04.003