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Article

Distribution of CFTR mutations in Saguenay- Lac-Saint-Jean: proposal of a panel of mutations for population screening.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2008

Madore Anne-Marie, Prévost Claude, Dorfman Ruslan, Taylor Chelsea, Durie Peter, Zielenski Julian, Laprise Catherine

Abstract excerpt

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...

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Source

Identifiers

PMID: 18344710
DOI: 10.1097/GIM.0b013e318164cb1c

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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