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Open AccessSingle-cell multimodal analysis in a case with reduced penetrance of Progranulin-Frontotemporal Dementia
We identified an autosomal dominant progranulin mutation carrier without symptoms of dementia in her lifetime (Reduced Penetrance Mutation Carrier, RedPenMC). This resistance to develop expected pathology present...
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Open AccessLeukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99
Mosaic loss of chromosome Y (LOY) in immune cells is a male-specific mutation associated with increased risk for morbidity and mortality. The CD99 gene, positioned in the pseudoautosomal regions of chromosomes X ...
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Open AccessPicodroplet partitioned whole genome amplification of low biomass samples preserves genomic diversity for metagenomic analysis
Whole genome amplification (WGA) is a challenging, key step in metagenomic studies of samples containing minute amounts of DNA, such as samples from low biomass environments. It is well known that multiple dis...
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Correction: Corrigendum: Solid-phase proximity ligation assays for individual or parallel protein analyses with readout via real-time PCR or sequencing
Nat. Protoc. 8, 1234–1248 (2013); doi:10.1038/nprot.2013.070; published online 30 May 2013; corrected after print 16 January 2015 In the version of this article initially published, the PCR table at Step 34C(i...
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Solid-phase proximity ligation assays for individual or parallel protein analyses with readout via real-time PCR or sequencing
Solid-phase proximity ligation assays share properties with the classical sandwich immunoassays for protein detection. The proteins captured via antibodies on solid supports are, however, detected not by singl...
