Journal article
Distribution of CFTR mutations in Saguenay– Lac-Saint-Jean: proposal of a panel of mutations for population screening
Abstract
PURPOSE: Saguenay-Lac-Saint-Jean is a region located in the northeastern part of the Province of Quebec, Canada, and is characterized by a founder effect. In this region, it has been documented that the incidence of cystic fibrosis reached 1/902 live births between 1975 and 1988, three times higher than the average incidence of 1/2500 live births reported in other Caucasian populations. This corresponds to a carrier rate of 1/15.
METHODS: Using …
Authors
Madore A-M; Prévost C; Dorfman R; Taylor C; Durie P; Zielenski J; Laprise C
Journal
Genetics in Medicine, Vol. 10, No. 3, pp. 201–206
Publisher
Elsevier
Publication Date
March 2008
DOI
10.1097/gim.0b013e318164cb1c
ISSN
1098-3600