Article
Genealogy and geographical distribution of CFTR mutations in Saguenay Lac-Saint-Jean (Quebec, Canada).
Annals of human biology - 1 Jan 2000
De Braekeleer M, Daigneault J, Allard C, Simard F, Aubin G
Abstract excerpt
Saguenay Lac-Saint-Jean (SLSJ), a region located in northeastern Quebec, has a high incidence of cystic fibrosis (CF). During the past few years the majority of the CF patients have been genotyped. The geographical distribution of the birth places of the patients and obligate carriers of the 621 + 1G-->T, the A455E and the delta F508 mutations (which accounted for 89% of the CF chromosomes) showed differences...
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