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Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)
Bibliography: leaves 101-110.
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| Main Author: | |
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| Format: | Thesis |
| Language: | English |
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Department of Paediatrics and Child Health
2015
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| _version_ | 1867613308508438528 |
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| access_status_str | Open Access |
| author | Shaboodien, Gasna |
| author_browse | Shaboodien, Gasna |
| author_facet | Shaboodien, Gasna |
| author_sort | Shaboodien, Gasna |
| collection | Thesis |
| description | Bibliography: leaves 101-110. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/11623 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:03.682Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2015 |
| publishDateRange | 2015 |
| publishDateSort | 2015 |
| publisher | Department of Paediatrics and Child Health |
| publisherStr | Department of Paediatrics and Child Health |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/11623 Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) Shaboodien, Gasna Paediatrics and Child Health Bibliography: leaves 101-110. A specialised clinic for the diagnosis of primary immunodeficiency diseases was established at the Red Cross War Memorial Children's Hospital (RXH) in 1982. The patient load was significant as clinic records indicated that 122 primary immunodeficiency cases were diagnosed on clinical and laboratory data in the period between 1983-1999. More than fifty percent of these conditions were antibody deficiency. Of the rest, nine cases were ascribed to severe combined immunodeficiency (SCID). The aim of the project was to do (1) mutational analysis on the affected families, (2) on the basis of the mutational analysis, offer genetic counselling, (3) do carrier screening tests on the families studied, and (4) to try and find a genotype/phenotype relationship in the gamma chain gene. 2015-01-06T18:55:29Z 2015-01-06T18:55:29Z 2002 Master Thesis Masters MSc http://hdl.handle.net/11427/11623 eng application/pdf Department of Paediatrics and Child Health Faculty of Health Sciences University of Cape Town |
| spellingShingle | Paediatrics and Child Health Shaboodien, Gasna Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) |
| thesis_degree_str | Master's |
| title | Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) |
| title_full | Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) |
| title_fullStr | Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) |
| title_full_unstemmed | Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) |
| title_short | Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) |
| title_sort | characterization of the genetic defects in patients with severe combined immunodeficiency scid |
| topic | Paediatrics and Child Health |
| url | http://hdl.handle.net/11427/11623 |
| work_keys_str_mv | AT shaboodiengasna characterizationofthegeneticdefectsinpatientswithseverecombinedimmunodeficiencyscid |