Article
Prevalence, geographical distribution and genealogical investigations of mutation 188 of lipoprotein lipase gene in the French Canadian population of Québec.
Clinical genetics - 1 Apr 1992
Bergeron J, Normand T, Bharucha A, Ven Murthy M R, Julien P, Gagné C, Dionne C, De Braekeleer M, Brun D, Hayden M R
Abstract excerpt
Familial lipoprotein lipase deficiency (FLD) is of particular interest to the French Canadian population of Québec since the largest concentration of homozygotes and carriers of this genetic disease in the world resides in this area. We have previously described a missense mutation (M-188) in the...
Topics
- Base Sequence
- Female
- Heterozygote
- Humans
- Hyperlipoproteinemia Type I
- Lipoprotein Lipase
- Male
- Molecular Sequence Data
- Mutation
- Prevalence
- Quebec