Article
Parallel sequencing used in detection of mosaic mutations: comparison with four diagnostic DNA screening techniques.
Human mutation - 1 Jun 2009
Rohlin Anna, Wernersson Josephine, Engwall Yvonne, Wiklund Leif, Björk Jan, Nordling Margareta
Abstract excerpt
We have made an evaluation of mutation detection techniques for their abilities to detect mosaic mutations. In this study, Sanger sequencing, single-strand conformation polymorphism (SSCP)/heteroduplex analysis (HD), protein truncation test (PTT), and denaturating high-performance liquid chromatography (DHPLC) were compared with parallel sequencing. In total DNA samples from nine patients were included in this...
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