Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases
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DOI: 10.1002/humu.24037
Abstract: Whole mitochondrial DNA (mtDNA) sequencing is now systematically used in clinical laboratories to screen patients with a phenotype suggestive of mitochondrial disease. Next Generation Sequencing (NGS) has significantly increased the number of identified pathogenic mtDNA… read more here.
Keywords: fiber studies; mitochondrial dna; single fiber; pathogenicity ... See more keywords