dc.contributor.author | Millington-Ward, Sophia | |
dc.date.accessioned | 2019-07-25T15:47:18Z | |
dc.date.available | 2019-07-25T15:47:18Z | |
dc.date.issued | 2000 | |
dc.identifier.citation | Sophia Millington-Ward, 'Gene therapy strategies for dominant heterogeneous disorders and the identification of a novel gene causing retinitis pigmentosa and sensorineural deafness', [thesis], Trinity College (Dublin, Ireland). Department of Genetics, 2000, pp 288 | |
dc.identifier.other | THESIS 5622 | |
dc.identifier.uri | http://hdl.handle.net/2262/88972 | |
dc.description.abstract | The purpose of this Ph.D. thesis has been to contribute towards the generation of therapies for inherited disorders such as retinitis pigmentosa (RP) and osteogenesis imperfecta (OI). In chapter 2, a novel mitochondrial disease mutation in the second serine tRNA gene (MTTS2) was discovered and characterised. A heteroplasmic C->A transversion at position 12258 in MTTS2 was found to cause RP in conjunction with sensorineural deafness in a large Irish kindred (Kenna et al., 1997; Mansergh et al., 1999) This study highlights yet again, the genetic
heterogeneity present in many inherited disorders such as RP (Appendix B and table 2, chapter 1). | |
dc.format | 1 volume | |
dc.language.iso | en | |
dc.publisher | Trinity College (Dublin, Ireland). Department of Genetics | |
dc.relation.isversionof | http://stella.catalogue.tcd.ie/iii/encore/record/C__Rb12465529 | |
dc.subject | Genetics, Ph.D. | |
dc.subject | Ph.D. Trinity College Dublin | |
dc.title | Gene therapy strategies for dominant heterogeneous disorders and the identification of a novel gene causing retinitis pigmentosa and sensorineural deafness | |
dc.type | thesis | |
dc.type.supercollection | thesis_dissertations | |
dc.type.supercollection | refereed_publications | |
dc.type.qualificationlevel | Doctoral | |
dc.type.qualificationname | Doctor of Philosophy (Ph.D.) | |
dc.rights.ecaccessrights | openAccess | |
dc.format.extentpagination | pp 288 | |
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