Fabry disease: Detection of Alu-mediated exon duplication by NGS.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular and cellular probes"
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
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.12.004
Abstract: We report the case of a patient with dystrophinopathy caused by DMD exon 2 duplication, showing marked asymmetric muscle atrophy. Immunostaining of the biopsied muscle tissue showed a mosaic staining, suggesting a somatic mosaicism. Polymerase… read more here.
Keywords: rearrangement; duplication; dmd exon; somatic mosaicism ... See more keywords