Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies

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dc.contributor.advisorGoliath, Reneen_ZA
dc.contributor.authorEsterhuizen, Alinaen_ZA
dc.date.accessioned2014-12-29T04:58:03Z
dc.date.available2014-12-29T04:58:03Z
dc.date.issued2010en_ZA
dc.descriptionIncludes bibliographical references (leaves 97-115).en_ZA
dc.description.abstractDuchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date. Large exonic deletions or duplications are found in approximately 70% of DMD patients, for which diagnostic testing is available. The remaining 30% carry point mutations, which go largely undetected, as no testing is currently offered due to the great size of the DMD gene and the logistical challenges involved.en_ZA
dc.identifier.apacitationEsterhuizen, A. (2010). <i>Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Department of Medicine. Retrieved from http://hdl.handle.net/11427/10465en_ZA
dc.identifier.chicagocitationEsterhuizen, Alina. <i>"Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Department of Medicine, 2010. http://hdl.handle.net/11427/10465en_ZA
dc.identifier.citationEsterhuizen, A. 2010. Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Esterhuizen, Alina AB - Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date. Large exonic deletions or duplications are found in approximately 70% of DMD patients, for which diagnostic testing is available. The remaining 30% carry point mutations, which go largely undetected, as no testing is currently offered due to the great size of the DMD gene and the logistical challenges involved. DA - 2010 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2010 T1 - Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies TI - Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies UR - http://hdl.handle.net/11427/10465 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/10465
dc.identifier.vancouvercitationEsterhuizen A. Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Department of Medicine, 2010 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/10465en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDepartment of Medicineen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherMedicineen_ZA
dc.titleDuchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapiesen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMScen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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