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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Detection of an unstable non-coding tandem repeat in the ZNF291 gene

Vallo Laura1, Bonifazi Emanuela, Angelini Corrado

  • 1Dipartimento di Biopatologia e Diagnostica per Immagini, Facoltà di Medicina e Chirurgia, Università di Roma "Tor Vergata", 00133 Roma, Italy. lauravallo@yahoo.it

Molecular and Cellular Probes
|June 8, 2007
PubMed

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...