Article
French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism.
Human mutation - 1 Jan 1995
Dorval I, Jézéquel P, Chauvel B, Dubourg C, Fergelot P, Le Gall J Y, Roussey M, Blayau M
Abstract excerpt
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.
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