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dc.contributor.authorMillington-Ward, Sophia
dc.date.accessioned2019-07-25T15:47:18Z
dc.date.available2019-07-25T15:47:18Z
dc.date.issued2000
dc.identifier.citationSophia 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.otherTHESIS 5622
dc.identifier.urihttp://hdl.handle.net/2262/88972
dc.description.abstractThe 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.format1 volume
dc.language.isoen
dc.publisherTrinity College (Dublin, Ireland). Department of Genetics
dc.relation.isversionofhttp://stella.catalogue.tcd.ie/iii/encore/record/C__Rb12465529
dc.subjectGenetics, Ph.D.
dc.subjectPh.D. Trinity College Dublin
dc.titleGene therapy strategies for dominant heterogeneous disorders and the identification of a novel gene causing retinitis pigmentosa and sensorineural deafness
dc.typethesis
dc.type.supercollectionthesis_dissertations
dc.type.supercollectionrefereed_publications
dc.type.qualificationlevelDoctoral
dc.type.qualificationnameDoctor of Philosophy (Ph.D.)
dc.rights.ecaccessrightsopenAccess
dc.format.extentpaginationpp 288
dc.description.noteTARA (Trinity's Access to Research Archive) has a robust takedown policy. Please contact us if you have any concerns: rssadmin@tcd.ie


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