Article
A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.
Biochemical and biophysical research communications - 15 Mar 1994
Pepe G, Chimienti G, Resta F, Di Perna V, Tarricone C, Lovecchio M, Colacicco A M, Capurso A
Abstract excerpt
We describe a second Italian family with primary Lipoprotein Lipase deficiency. A new mutation in exon 8 causes a Leu365- > Val change resulting in severe mass reduction and loss of enzyme activity. We suggest that this change interferes with the correct folding and stability of the protein and impairs the assembly of the active homodimer. The procedures applied are useful to screen a large sample of population...
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