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Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome
Includes abstract.
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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_ | 1867613291924160512 |
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| access_status_str | Open Access |
| author | Watson, Lauren |
| author2 | Mayosi, B M |
| author_browse | Mayosi, B M Watson, Lauren |
| author_facet | Mayosi, B M Watson, Lauren |
| author_sort | Watson, Lauren |
| collection | Thesis |
| description | Includes abstract. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/3107 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:33:48.261Z |
| 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:11427/3107 Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome Watson, Lauren Mayosi, B M Medicine Includes abstract. Includes bibliographical references (leaves 97-103). A novel fibrotic syndrome was recently reported in a South African family, characterised by poikiloderma, tendon contracture and progressive pulmonary fibrosis. The pathological hallmark of this autosomal dominant condition is abnormal fibrosis of the skin, tendons and viscera, with variable penetrance. A candidate gene approach was adopted to investigate the molecular basis of this disease. 2014-07-28T14:52:41Z 2014-07-28T14:52:41Z 2009 Master Thesis Masters MSc http://hdl.handle.net/11427/3107 eng application/pdf Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| spellingShingle | Medicine Watson, Lauren Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| thesis_degree_str | Master's |
| title | Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| title_full | Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| title_fullStr | Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| title_full_unstemmed | Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| title_short | Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| title_sort | elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome |
| topic | Medicine |
| url | http://hdl.handle.net/11427/3107 |
| work_keys_str_mv | AT watsonlauren elucidatingthemolecularbasisofanovelautosomaldominantfibroticsyndrome |