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French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism
I Dorval1, P Jézéquel, B Chauvel
1Laboratoire de Génétique Moléculaire, CHU Ponchaillou, Rennes, France.
Human Mutation
|January 1, 1995
Abstract:
The authors describe a cystic fibrosis family genotype analysis showing that the R297Q amino acid change is a rare polymorphism rather than a deleterious mutation as previously reported. Indeed in this family two healthy subjects have the following genotypes: delta F508/R297Q and N1303K/R297Q.