https://ogma.newcastle.edu.au/vital/access/ /manager/Index ${session.getAttribute("locale")} 5 https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:20672 Tue 15 Sep 2015 09:41:54 AEST ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:14330 90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutation screening in 17 known XLID genes in patients from 135 families and found eight single-nucleotide changes that were absent in controls. For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability.]]> Sat 24 Mar 2018 08:26:21 AEDT ]]> https://ogma.newcastle.edu.au/vital/access/ /manager/Repository/uon:5093 Sat 24 Mar 2018 07:48:50 AEDT ]]>