Article
Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.
Human genetics - 1 Dec 1997
De Braekeleer M, Allard C, Leblanc J P, Simard F, Aubin G
Abstract excerpt
Cystic fibrosis (CF) has a high incidence in the French-Canadian population of Saguenay Lac-Saint-Jean (Quebec). The A455E mutation accounts for 8.3% of the CF chromosomes. This mutation was shown to be associated with a milder lung disease in the Dutch population. Twenty two CF patients distributed in 17 families and compound heterozygotes for the A455E mutation have been followed at the Clinique de Fibrose...
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