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Mutation analysis at the lipoprotein lipase gene locus in two South African kindreds
Familial lipoprotein lipase (LPL) deficiency is a rare disorder of lipid metabolism associated with massive chylomicronaemia. Patients often present early in life with abdominal pain, pancreatitis, hepatosplenomegaly, eruptive xanthomata and zero to near zero levels of LPL activity in post-heparin p...
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| Format: | Thesis |
| Language: | English |
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Division of Chemical Pathology
2018
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