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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...

Topics

Child
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Genetic Carrier Screening
Genetic Testing
Humans
Incidence
Mutation
Phenotype
Quebec

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18344710
DOI: 10.1097/GIM.0b013e318164cb1c

Genes

CFTR

Provenance

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