Sign Up to like & get
recommendations!
0
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
Sign Up to like & get
recommendations!
1
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