Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Episode von Medizin - Open Access LMU - Teil 20/22 von Ludwig-Maximilians-Universität München · 1. April 2012
Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, the interpretation of the numerous sequence variants identified remains challenging. We assessed the application of exome sequencing for diagnostics in complex I deficiency, a disease with vast genetic heterogeneity.
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