Regular ArticleUltrarapid Mutation Detection by Multiplex, Solid-Phase Chemical Cleavage
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Efficient detection of factor IX mutations by denaturing high-performance liquid chromatography in Taiwanese hemophilia B patients, and the identification of two novel mutations
2014, Kaohsiung Journal of Medical SciencesCitation Excerpt :In all, 11 FIX gene mutations were detected (Table 2), including eight point mutations (2 nonsense mutations and 6 missense mutations), one small deletion (Family No. 2), one small insertion (Family No. 6), and one large deletion (Family No. 8). Nine of the 11 identified FIX mutations were listed in the HB Mutation Database (version 13, 2004), and their respective references are listed in Table 2 [8–14]. Two mutations (exon6: c.687_695, del 9 mer and c460_461, ins T) were determined to be novel mutations after a search of literature published between 2004 and 2012 [15–23]; both of these mutations resulted in severe FIX deficiency in men (Cases No. 4 and No. 11).
A streptavidin paramagnetic-particle based competition assay for the evaluation of the optical selectivity of quadruplex nucleic acid fluorescent probes
2012, MethodsCitation Excerpt :Consequently, streptavidin-coated paramagnetic particles have been developed in order to separate non-biotinylated macromolecules (oligonucleotides, proteins) from biotinylated ones. These particles are routinely used for oligonucleotide or protein purifications and the capture of biotinylated oligonucleotides in many applications [17–22]. These so-called “pull-down” experiments display significant advantages over gel electrophoresis, column chromatography, centrifugation, precipitation or extraction.
Abnormal hemostasis in a knock-in mouse carrying a variant of factor IX with impaired binding to collagen type IV
2009, Journal of Thrombosis and HaemostasisEnzymatic and Chemical Cleavage Methods to Identify Genetic Variation
2009, Molecular Diagnostics: Second EditionBRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives
2006, European Journal of CancerThe binding of guanine-guanine mismatched DNA to naphthyridine dimer immobilized sensor surfaces: Kinetic aspects
2004, Bioorganic and Medicinal Chemistry