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Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies
Includes bibliographical references (leaves 97-115).
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Department of Medicine
2014
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| _version_ | 1867614215928283136 |
|---|---|
| access_status_str | Open Access |
| author | Esterhuizen, Alina |
| author2 | Goliath, Rene |
| author_browse | Esterhuizen, Alina Goliath, Rene |
| author_facet | Goliath, Rene Esterhuizen, Alina |
| author_sort | Esterhuizen, Alina |
| collection | Thesis |
| description | Includes bibliographical references (leaves 97-115). |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/10465 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:48:30.686Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/10465 Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies Esterhuizen, Alina Goliath, Rene Medicine Includes bibliographical references (leaves 97-115). 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. 2014-12-29T04:58:03Z 2014-12-29T04:58:03Z 2010 Master Thesis Masters MSc http://hdl.handle.net/11427/10465 eng application/pdf Department of Medicine Faculty of Health Sciences University of Cape Town |
| spellingShingle | Medicine Esterhuizen, Alina Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies |
| thesis_degree_str | Master's |
| title | Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies |
| title_full | Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies |
| title_fullStr | Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies |
| title_full_unstemmed | Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies |
| title_short | Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies |
| title_sort | duchenne muscular dystrophy mutation profiling in view of the emerging gene based therapies |
| topic | Medicine |
| url | http://hdl.handle.net/11427/10465 |
| work_keys_str_mv | AT esterhuizenalina duchennemusculardystrophymutationprofilinginviewoftheemerginggenebasedtherapies |