Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/21982
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dc.contributor.authorMangelsdorf, Marie Eliseen
dc.date.issued2003en
dc.identifier.urihttp://hdl.handle.net/2440/21982-
dc.description"May 2003"en
dc.descriptionBibliography: leaves 187-213.en
dc.descriptionxi, 213, [46] leaves : ill. (col.) ; 30 cm.en
dc.description.abstractThe aim of this study is to identify novel genes involved in X-linked mental retardation (XLMR). The first part of the project involved molecular characterisation of the breakpoints of three X chromosome rearrangements in three unrelated patients with mental retardation, to identify candidate genes for familial XLMR. The second part involved positional candidate gene screening in a family that was localised to two regions of the X chromosome by linkage analysis and the final part the identification of the homeobox gene ARX and its role in both syndromic and non-syndromic XLMR. This study has addressed the identification of candidate genes for XLMR using two positional cloning approaches and two candidate genes, BGN and TMG3a, have been identified. It has also resulted in a refined linkage interval in a large NSXLMR family, in which screening of candidates has begun. Finally, mutations in the gene ARX have been identified as a significant contributor to the aetiology of XLMR.en
dc.format.extent105977 bytesen
dc.format.mimetypeapplication/pdfen
dc.language.isoenen
dc.titleIdentification of novel genes for x-linked mental retardation / by Marie Mangelsdorf.en
dc.typeThesisen
dc.contributor.schoolDept. of Paediatricsen
dc.provenanceCopyright material removed from digital thesis. See print copy in University of Adelaide Library for full text.en
dc.provenanceThis electronic version is made publicly available by the University of Adelaide in accordance with its open access policy for student theses. Copyright in this thesis remains with the author. This thesis may incorporate third party material which has been used by the author pursuant to Fair Dealing exception. If you are the author of this thesis and do not wish it to be made publicly available or If you are the owner of any included third party copyright material you wish to be removed from this electronic version, please complete the take down form located at: http://www.adelaide.edu.au/legalsen
dc.description.dissertationThesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, 2003en
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