Fabry disease: Detection of Alu-mediated exon duplication by NGS.
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DOI: 10.1016/j.mcp.2019.03.008
Abstract: Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be… read more here.
Keywords: exon duplication; mediated exon; alu mediated; fabry disease ... See more keywords