Molecular characterisation of acute intermittent porphyria in South Africa

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dc.contributor.advisorMeissner, Peteren_ZA
dc.contributor.advisorCorrigall, Anneen_ZA
dc.contributor.advisorBerman, Peteren_ZA
dc.contributor.advisorPillay, Tahiren_ZA
dc.contributor.authorFortgens, Philip Hendriken_ZA
dc.date.accessioned2014-08-15T14:02:31Z
dc.date.available2014-08-15T14:02:31Z
dc.date.issued2014en_ZA
dc.descriptionIncludes abstract.en_ZA
dc.descriptionIncludes bibliographical references.en_ZA
dc.description.abstractAcute intermittent porphyria belongs to a group of inherited disorders of haem metabolism. The object of this project is to characterise the mutations in the hydroxymethylbilane synthase (HMBS) gene in a cohort of South African patients. The elucidation of these mutations will facilitate an understanding of the molecular basis of AIP in South Africa, and provide a platform for the screening of family members of affected patients. Identification of latent carriers would allow for education with respect to precipitants and how best to avoid them, so as to minimise the risk of provoking an acute attack.en_ZA
dc.identifier.apacitationFortgens, P. H. (2014). <i>Molecular characterisation of acute intermittent porphyria in South Africa</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Chemical Pathology. Retrieved from http://hdl.handle.net/11427/6556en_ZA
dc.identifier.chicagocitationFortgens, Philip Hendrik. <i>"Molecular characterisation of acute intermittent porphyria in South Africa."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Chemical Pathology, 2014. http://hdl.handle.net/11427/6556en_ZA
dc.identifier.citationFortgens, P. 2014. Molecular characterisation of acute intermittent porphyria in South Africa. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Fortgens, Philip Hendrik AB - Acute intermittent porphyria belongs to a group of inherited disorders of haem metabolism. The object of this project is to characterise the mutations in the hydroxymethylbilane synthase (HMBS) gene in a cohort of South African patients. The elucidation of these mutations will facilitate an understanding of the molecular basis of AIP in South Africa, and provide a platform for the screening of family members of affected patients. Identification of latent carriers would allow for education with respect to precipitants and how best to avoid them, so as to minimise the risk of provoking an acute attack. DA - 2014 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2014 T1 - Molecular characterisation of acute intermittent porphyria in South Africa TI - Molecular characterisation of acute intermittent porphyria in South Africa UR - http://hdl.handle.net/11427/6556 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/6556
dc.identifier.vancouvercitationFortgens PH. Molecular characterisation of acute intermittent porphyria in South Africa. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Chemical Pathology, 2014 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/6556en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Chemical Pathologyen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.titleMolecular characterisation of acute intermittent porphyria in South Africaen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMMeden_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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