Gene therapy strategies for dominant heterogeneous disorders and the identification of a novel gene causing retinitis pigmentosa and sensorineural deafness
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 288Download Item:
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).
Author: Millington-Ward, Sophia
Qualification name:
Doctor of Philosophy (Ph.D.)Publisher:
Trinity College (Dublin, Ireland). Department of GeneticsNote:
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Genetics, Ph.D., Ph.D. Trinity College DublinMetadata
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