Molecular characterisation of acute intermittent porphyria in South Africa

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.

Grantor dc:publisher.institution

Division of Chemical Pathology

Year dc:date.issued

2014

Author dc:creator

• Fortgens, Philip Hendrik

Advisors dc:contributor.advisor

• Meissner, Peter
• Corrigall, Anne
• Berman, Peter
• Pillay, Tahir

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/6556

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/6556