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Molecular characterisation of acute intermittent porphyria in South Africa
Includes abstract.
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Division of Chemical Pathology
2014
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| _version_ | 1867611303178141696 |
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| access_status_str | Open Access |
| author | Fortgens, Philip Hendrik |
| author2 | Meissner, Peter |
| author_browse | Fortgens, Philip Hendrik Meissner, Peter |
| author_facet | Meissner, Peter Fortgens, Philip Hendrik |
| author_sort | Fortgens, Philip Hendrik |
| collection | Thesis |
| description | Includes abstract. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/6556 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| 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 | Division of Chemical Pathology |
| publisherStr | Division of Chemical Pathology |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/6556 Molecular characterisation of acute intermittent porphyria in South Africa Fortgens, Philip Hendrik Meissner, Peter Corrigall, Anne Berman, Peter Pillay, Tahir Includes abstract. Includes bibliographical references. Acute intermittent porphyria belongs to a group of inherited disorders of haem metabolism. The object of this project is to characterise the mutations in the hydroxymethylbilane synthase (HMBS) gene in a cohort of South African patients. The elucidation of these mutations will facilitate an understanding of the molecular basis of AIP in South Africa, and provide a platform for the screening of family members of affected patients. Identification of latent carriers would allow for education with respect to precipitants and how best to avoid them, so as to minimise the risk of provoking an acute attack. 2014-08-15T14:02:31Z 2014-08-15T14:02:31Z 2014 Master Thesis Masters MMed http://hdl.handle.net/11427/6556 eng application/pdf Division of Chemical Pathology Faculty of Health Sciences University of Cape Town |
| spellingShingle | Fortgens, Philip Hendrik Molecular characterisation of acute intermittent porphyria in South Africa |
| thesis_degree_str | Master's |
| title | Molecular characterisation of acute intermittent porphyria in South Africa |
| title_full | Molecular characterisation of acute intermittent porphyria in South Africa |
| title_fullStr | Molecular characterisation of acute intermittent porphyria in South Africa |
| title_full_unstemmed | Molecular characterisation of acute intermittent porphyria in South Africa |
| title_short | Molecular characterisation of acute intermittent porphyria in South Africa |
| title_sort | molecular characterisation of acute intermittent porphyria in south africa |
| url | http://hdl.handle.net/11427/6556 |
| work_keys_str_mv | AT fortgensphiliphendrik molecularcharacterisationofacuteintermittentporphyriainsouthafrica |