Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.11.005
Abstract: Niemann-Pick C disease (NPC) is a lysosomal disease caused by mutations in NPC1 or NPC2 genes responsible for intracellular accumulation of free cholesterol and glycosphingolipids in a variety of tissues. We collected plasma samples from… read more here.
Keywords: lipidomic analysis; analysis; disease; comprehensive targeted ... See more keywords
Abstract 1764: Accurate and reproducible detection of fusions and exon skipping events in NSCLC-derived samples using a comprehensive, targeted RNA-Seq system across multiple laboratories
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Research"
DOI: 10.1158/1538-7445.am2017-1764
Abstract: • Targeted RNA-Seq of expression markers in NSCLC FFPE tumors requires integrated reagents, protocols, and interpretive software that can ensure consistent results across laboratories. • In this study, a comprehensive targeted NGS system, the QuantideX®… read more here.
Keywords: skipping events; system; targeted rna; comprehensive targeted ... See more keywords