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The molecular investigation of Stargardt disease in South Africa
Bibliography: leaves 116-130.
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Division of Human Genetics
2014
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| _version_ | 1867613328975593472 |
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| access_status_str | Open Access |
| author | September, Alison |
| author2 | Greenberg, Jacquie |
| author_browse | Greenberg, Jacquie September, Alison |
| author_facet | Greenberg, Jacquie September, Alison |
| author_sort | September, Alison |
| collection | Thesis |
| description | Bibliography: leaves 116-130. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/3105 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:23.309Z |
| 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 Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/3105 The molecular investigation of Stargardt disease in South Africa September, Alison Greenberg, Jacquie Ramesar, Raj Callaghan, R Kerr, Ian Linton, K Human Genetics Bibliography: leaves 116-130. Hereditary macular degeneration describes a group of conditions causing macular pathology. Stargardt disease (STGD) is the most common inherited juvenile macular dystrophy characterised by severed reduction of central visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant form. 2014-07-28T14:52:39Z 2014-07-28T14:52:39Z 2003 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/3105 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Human Genetics September, Alison The molecular investigation of Stargardt disease in South Africa |
| thesis_degree_str | Doctoral |
| title | The molecular investigation of Stargardt disease in South Africa |
| title_full | The molecular investigation of Stargardt disease in South Africa |
| title_fullStr | The molecular investigation of Stargardt disease in South Africa |
| title_full_unstemmed | The molecular investigation of Stargardt disease in South Africa |
| title_short | The molecular investigation of Stargardt disease in South Africa |
| title_sort | molecular investigation of stargardt disease in south africa |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/3105 |
| work_keys_str_mv | AT septemberalison themolecularinvestigationofstargardtdiseaseinsouthafrica AT septemberalison molecularinvestigationofstargardtdiseaseinsouthafrica |