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 i...
Topics
- Adult
- Amino Acid Sequence
- Animals
- DNA
- Exons
- Family
- Female
- Genetic Variation
- Humans
- Italy
- Leucine
- Lipoprotein Lipase
- Male
- Mammals
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Polymerase Chain Reaction