Adelaide Research & Scholarship
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https://hdl.handle.net/2440/38233
| Type: | Thesis |
| Title: | The Marfan syndrome and related phenotypes : delineation of various phenotypes and analysis of the fibrillin gene (FBN1) for putative mutations |
| Author: | Adés, Lesley Carole |
| Issue Date: | 1995 |
| School/Discipline: | Dept. of Paediatrics |
| Abstract: | A clinical and molecular study of patients with unequivocal Marfan sydnrome, or with an undiagnosed connective tissue disorder with some features in common with Marfan syndrome. Presents the phenotype of six Marfan patients with an FBN1 mutation, patients with Shprintzen-Goldberg syndrome or furlong syndrome, and two children with congenital aneurysms. Details the molecular screening of 44% of the FBN1 gene coding sequence for putative mutations. |
| Dissertation Note: | Thesis (M.D.) -- University of Adelaide, Dept. of Paediatrics, 1995 |
| Subject: | Marfan syndrome Genetic aspects |
| Description: | One of the author's previously published articles is inserted. Bibliography: leaves 174-191. xi, 213 leaves, [15] leaves of plates |
| Provenance: | Copyright material removed from digital thesis. See print copy in University of Adelaide Library for full text. This electronic version is made publicly available by the University of Adelaide in accordance with its open access policy for student theses. Copyright in this thesis remains with the author. This thesis may incorporate third party material which has been used by the author pursuant to Fair Dealing exception. If you are the author of this thesis and do not wish it to be made publicly available or If you are the owner of any included third party copyright material you wish to be removed from this electronic version, please complete the take down form located at: http://www.adelaide.edu.au/legals |
| Appears in Collections: | Research Theses |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| 01front.pdf | 469.46 kB | Adobe PDF | View/Open | |
| 02whole.pdf | 13.36 MB | Adobe PDF | View/Open | |
| Permissions Restricted Access | Library staff access only | 210.44 kB | Adobe PDF | View/Open |
| Restricted Restricted Access | Library staff access only | 14.21 MB | Adobe PDF | View/Open |
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