S
Saskia Bijvoet
Researcher at University of Cape Town
Publications - 1
Citations - 43
Saskia Bijvoet is an academic researcher from University of Cape Town. The author has contributed to research in topics: Mutation (genetic algorithm) & Gene mutation. The author has an hindex of 1, co-authored 1 publications receiving 40 citations.
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A missense mutation (Asp250----Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries.
Yuanhong Ma,Bonnie I. Wilson,Saskia Bijvoet,Howard E. Henderson,Elizabeth Cramb,Ghislaine Roederer,M.R. Ven Murthy,Pierre Julien,Henk D. Bakker,Kastelein John J P,John D. Brunzell,Michael R. Hayden +11 more
TL;DR: By examining the 10 coding exons of the LPL gene in another French Canadian patient, a third missense mutation is identified that causes a catalytically defective LPL protein and will allow for rapid screening in patients with LPL deficiency.