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dc.contributor.author Kerékgyártó, Márta Zsuzsa
dc.contributor.author Németh, Nóra
dc.contributor.author Kerekes T
dc.contributor.author Rónai, Zsolt
dc.contributor.author Guttman, András
dc.date.accessioned 2016-04-11T09:55:13Z
dc.date.available 2016-04-11T09:55:13Z
dc.date.issued 2013
dc.identifier.citation pagination=229-234;journalVolume=1286;journalTitle=JOURNAL OF CHROMATOGRAPHY A; hu
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/1056
dc.identifier.uri doi:10.1016/j.chroma.2013.02.062
dc.description.abstract The transmembrane protein wolframin (WSF1) plays a crucial role in cell integrity in pancreatic beta cells and maintaining ER homeostasis. Genetic variations in the WFS1 gene have been described to be associated with Wolfram syndrome or type 2 diabetes mellitus. In this paper we report on an efficient double-tube allele-specific amplification method in conjunction with ultrafast capillary gel electrophoresis for direct haplotyping analysis of the SNPs in two important miRNA-binding sites (rs1046322 and rs9457) in the WFS1 gene. An automated single-channel capillary gel electrophoresis system was utilized in the method that provided dsDNA fragment analysis in less than 240 s. The light-emitting diode induced fluorescence (LEDIF) detection system enabled excellent sensitivity for automated haplotyping of a large number of clinical samples. The detection limit was 0.002 ng/muL using field amplified injection from water diluted samples. The dynamic quantitation range was 0.08-10.00 ng/muL (R(2)=0.9997) in buffer diluted samples. hu
dc.relation.ispartof urn:issn:0021-9673
dc.title Ultrafast haplotyping of putative microRNA-binding sites in the WFS1 gene by multiplex polymerase chain reaction and capillary gel electrophoresis. hu
dc.type Journal Article hu
dc.date.updated 2015-01-13T15:04:44Z
dc.language.rfc3066 en hu
dc.identifier.mtmt 2302189
dc.identifier.wos 000317156100027
dc.identifier.pubmed 23499253
dc.contributor.department PE/MIK/MUKKI/MTA-PE Lendület Transzlációs Glikomika Kutatócsoport
dc.contributor.department DE/OEC/ÁOK/Molekuláris Medicina Kutatóközpont
dc.contributor.department SE/AOK/I/Orvosi Vegytani, Molekuláris Biológiai és Patobiokémiai Intézet
dc.contributor.institution Pannon Egyetem


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