Analysis of genetic variants in the 5’ regulatory region of the ALAS1 gene in South African patients with Variegate Porphyria (VP)
Thesis (MSc (Genetics))—University of Stellenbosch, 2007. === The porphyrias are a group of genetic disorders arising from mutations in either one of the final seven genes encoding the haeme synthesis enzymes. These disease-causing mutations lead to an enzyme deficiency that disrupts normal haeme...
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Format: | Others |
Language: | en |
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Stellenbosch : University of Stellenbosch
2007
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Online Access: | http://hdl.handle.net/10019.1/2625 |