https://nova.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:55658 Wed 12 Jun 2024 12:20:42 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:24223 Wed 11 Apr 2018 10:56:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:28085 Wed 11 Apr 2018 10:23:54 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:50197 Wed 06 Mar 2024 14:42:35 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:34524 Wed 06 Apr 2022 13:58:28 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:38916 Wed 02 Mar 2022 15:43:13 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:43460 SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons for 8 exons were sequenced using the MinION with 1D chemistry on an R9.4 flow cell. All known missense mutations were detected in all samples showing 100 % concordance with results from other methods. However, the MinION failed to detect the insertions/deletions (INDELs) present in these patients. Nevertheless, these results indicate that MinION is a cost-effective platform for use as an initial screening step in the detection of nucleotide substitution mutations in in SCN1A, especially in under-resourced laboratories or hospitals. Further improvements are required to reliably detect INDELS in this gene.]]> Tue 20 Sep 2022 08:42:26 AEST ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:47960 Mon 13 Feb 2023 14:42:01 AEDT ]]> https://nova.newcastle.edu.au/vital/access/ /manager/Repository/uon:53880 Fri 19 Jan 2024 12:44:57 AEDT ]]>