The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa

 

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dc.contributor.advisor Henderson, Howard en_ZA
dc.contributor.advisor Marais, A David en_ZA
dc.contributor.author Abera, Aron en_ZA
dc.date.accessioned 2014-07-29T09:38:57Z
dc.date.available 2014-07-29T09:38:57Z
dc.date.issued 2005 en_ZA
dc.identifier.citation Abera, A. 2005. The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa. University of Cape Town. en_ZA
dc.identifier.uri http://hdl.handle.net/11427/3502
dc.description Includes bibliographical references (leaves 82-88).
dc.description.abstract Monogenic defects in the low density lipoprotein (LDL) uptake pathway occur commonly in South Africans, particularly in the Afrikaner community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure and thus function of the LDL receptor (LDLr). Defects in LDLr binding domain of apolipopreteinB-100 (apoB-100) are rarely encountered and are know as Familial defective apoB-100 (FDB). Several critical proteins are active in the LDL uptake pathway and their deficiencies are now being shown to underlie the rare autosomal recessive forms of hypercholesterolemia (ARH). One of these proteins is the LDLr adaptor protein know as ARH, which is presumed to facilitate interaction of the cytoplasmic tail of the LDLr with the internal protein matrix required for the receptor internalisation. en_ZA
dc.language.iso eng en_ZA
dc.subject.other Medicine en_ZA
dc.title The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa en_ZA
dc.type Thesis / Dissertation en_ZA
uct.type.publication Research en_ZA
uct.type.resource Thesis en_ZA
dc.publisher.institution University of Cape Town
dc.publisher.faculty Faculty of Health Sciences en_ZA
dc.publisher.department Department of Medicine en_ZA
dc.type.qualificationlevel Masters en_ZA
dc.type.qualificationname MSc en_ZA
uct.type.filetype Text
uct.type.filetype Image


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