The molecular investigation of Stargardt disease in South Africa

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dc.contributor.advisorGreenberg, Jacquieen_ZA
dc.contributor.advisorRamesar, Rajen_ZA
dc.contributor.advisorCallaghan, Ren_ZA
dc.contributor.advisorKerr, Ianen_ZA
dc.contributor.advisorLinton, Ken_ZA
dc.contributor.authorSeptember, Alisonen_ZA
dc.date.accessioned2014-07-28T14:52:39Z
dc.date.available2014-07-28T14:52:39Z
dc.date.issued2003en_ZA
dc.descriptionBibliography: leaves 116-130.
dc.description.abstractHereditary macular degeneration describes a group of conditions causing macular pathology. Stargardt disease (STGD) is the most common inherited juvenile macular dystrophy characterised by severed reduction of central visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant form.en_ZA
dc.identifier.apacitationSeptember, A. (2003). <i>The molecular investigation of Stargardt disease in South Africa</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/3105en_ZA
dc.identifier.chicagocitationSeptember, Alison. <i>"The molecular investigation of Stargardt disease in South Africa."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2003. http://hdl.handle.net/11427/3105en_ZA
dc.identifier.citationSeptember, A. 2003. The molecular investigation of Stargardt disease in South Africa. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - September, Alison AB - Hereditary macular degeneration describes a group of conditions causing macular pathology. Stargardt disease (STGD) is the most common inherited juvenile macular dystrophy characterised by severed reduction of central visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant form. DA - 2003 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2003 T1 - The molecular investigation of Stargardt disease in South Africa TI - The molecular investigation of Stargardt disease in South Africa UR - http://hdl.handle.net/11427/3105 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/3105
dc.identifier.vancouvercitationSeptember A. The molecular investigation of Stargardt disease in South Africa. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2003 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/3105en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleThe molecular investigation of Stargardt disease in South Africaen_ZA
dc.typeDoctoral Thesis
dc.type.qualificationlevelDoctoral
dc.type.qualificationnamePhDen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
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