https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:48712 Wed 29 Mar 2023 17:13:58 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13671 Wed 11 Apr 2018 16:06:02 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:13673 Wed 11 Apr 2018 15:24:43 AEST ]]> https://ogma.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://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:35898 Tue 14 Jan 2020 11:55:50 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:7518 Sat 24 Mar 2018 08:38:28 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:25354 Sat 24 Mar 2018 07:24:42 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:54772 Mon 11 Mar 2024 15:07:29 AEDT ]]>