Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)

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dc.contributor.authorShaboodien, Gasnaen_ZA
dc.date.accessioned2015-01-06T18:55:29Z
dc.date.available2015-01-06T18:55:29Z
dc.date.issued2002en_ZA
dc.descriptionBibliography: leaves 101-110.en_ZA
dc.description.abstractA 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.en_ZA
dc.identifier.apacitationShaboodien, G. (2002). <i>Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health. Retrieved from http://hdl.handle.net/11427/11623en_ZA
dc.identifier.chicagocitationShaboodien, Gasna. <i>"Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2002. http://hdl.handle.net/11427/11623en_ZA
dc.identifier.citationShaboodien, G. 2002. Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID). University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Shaboodien, Gasna AB - 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. DA - 2002 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2002 T1 - Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) TI - Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID) UR - http://hdl.handle.net/11427/11623 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/11623
dc.identifier.vancouvercitationShaboodien G. Characterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID). [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Department of Paediatrics and Child Health, 2002 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/11623en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDepartment of Paediatrics and Child Healthen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherPaediatrics and Child Healthen_ZA
dc.titleCharacterization of the genetic defects in patients with Severe Combined Immunodeficiency (SCID)en_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMScen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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