Article
Genealogy and regional distribution of lipoprotein lipase deficiency in French-Canadians of Quebec.
Human biology - 1 Feb 1993
Dionne C, Gagné C, Julien P, Murthy M R, Roederer G, Davignon J, Lambert M, Chitayat D, Ma R, Henderson H
Abstract excerpt
Lipoprotein lipase (LPL) deficiency, an autosomal recessive disorder causing chylomicronemia, has a high prevalence in the French-Canadian population of Quebec. The molecular basis of LPL deficiency has been defined, and two major mutations have been shown to have an uneven geographic distribution. Two mutations, one at residue 188 (M-188) and the other at residue 207 (M-207), are described here; they account for...
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