Article
Assessment of French patients with LPL deficiency for French Canadian mutations.
Journal of medical genetics - 1 Aug 1997
Foubert L, De Gennes J L, Lagarde J P, Ehrenborg E, Raisonnier A, Girardet J P, Hayden M R, Benlian P
Abstract excerpt
Mutations in the LPL gene show high levels of allelic heterogeneity between and within different populations. Complete LPL deficiency has a very high prevalence in French Canadians, where only three missense mutations account for > 97% of cases, most consistent with founder mutations introduced e...
Topics
- Alleles
- Asparagine
- Aspartic Acid
- Canada
- Female
- France
- Glycine
- Humans
- Lipoprotein Lipase
- Male
- Pedigree
- Point Mutation