French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism |
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| Authors: | Ian Dorval,Pascal J z quel,Bruno Chauvel,Christ le Dubourg,Patricia Fergelot,Jean Yves Le Gall,Michel Roussey,Martine Blayau |
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| Affiliation: | Ian Dorval,Pascal Jézéquel,Bruno Chauvel,Christèle Dubourg,Patricia Fergelot,Jean Yves Le Gall,Michel Roussey,Martine Blayau |
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| Abstract: | The authors describe a cystic fibrosis family genotvpe 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: ΔF508/R297Q and N1303K/R297Q. © 1995 Wiley-Liss, Inc. |
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| Keywords: | Cystic fibrosis CFTR mutations Haplotype analysis |
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