Article
Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec.
Human genetics - 1 Aug 1992
Normand T, Bergeron J, Fernandez-Margallo T, Bharucha A, Ven Murthy M R, Julien P, Gagné C, Dionne C, De Braekeleer M, Ma R
Abstract excerpt
Mutations in the lipoprotein lipase (LPL) gene, leading to partial or total inactivation of the enzyme, result in a hereditary clinical syndrome called familial LPL deficiency. The French Canadian population, which is primarily and historically located in the province of Québec, has the highest worldwide frequency of LPL-deficient patients. We have analyzed the prevalence, spatial distribution, and genealogy in...
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