Article
Restriction isotyping of the premature termination variant of lipoprotein lipase in Alberta Hutterites.
Clinical biochemistry - 1 Feb 1996
Hegele R A, Gandhi S, Brunt J H, Connelly P W
Abstract excerpt
OBJECTIVE: Lipoprotein lipase (LPL) plays a pivotal role in lipoprotein metabolism. A relatively common LPL variant results from a C --> G transversion in exon 9, which creates a premature termination codon (S447X) and results in a truncated LPL molecule lacking the C-terminal dipeptide Ser-Gly. We wished to determine the functional relevance of this variant. DESIGN AND METHODS: We used Mn/l restriction digestion...
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