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Mutation Detection

The detection by physical, chemical, or biological means of an altered DNA sequence. Includes SSCP, DNA sequencing, hybridization, and reporter gene… 
National Institutes of Health

Papers overview

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2016
2016
A novel electrochemical DNA biosensor based on a modified magnetic bar carbon paste electrode with Fe3O4NPs-reduced graphene oxide/PANHS nanocomposite.
2013
2013
Development of a "signal-on" electrochemical DNA sensor with an oligo-thymine spacer for point mutation detection.
We report a reagentless and reusable "signal-on" electrochemical DNA sensor that utilizes oligo-thymine as a flexible spacer… 
2013
2013
Determination of EGFR mutations in single cells microdissected from enriched lung tumor cells in peripheral blood
AbstractA minimally invasive and repeatable approach for real-time epidermal growth factor receptor (EGFR) mutation surveillance… 
2013
2013
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Highly Cited
2012
Highly Cited
2012
Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform.
2005
2005
Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome
To the Editor: Rett syndrome (RTT; MIM 312750) is a neurodevelopmental disorder almost exclusively diagnosed in females. From the… 
2004
2004
High-throughput mutation detection underlying adaptive evolution of Escherichia coli-K12.
Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis of base-specific cleavage… 
2000
2000
Allelic discrimination for single nucleotide polymorphisms in the human scavenger receptor class B type 1 gene locus using fluorescent probes.
The scavenger receptor class B type 1 (SR-BI), a multiligand receptor, appears to be a physiologically relevant HDL receptor in… 
1999
1999
Rapid genotyping of human platelet antigen 1 (HPA‐1) with fluorophore‐labelled hybridization probes on the LightCyclerTM
Genotyping of human platelet alloantigens (HPA) has become an important procedure in the diagnosis and prevention of disorders… 
1989
1989
Plasma levels of atrial natriuretic peptide in transient left ventricular ischemia.
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