French CF family genotype analysis shows that the R297Q mutation is a rare polymorphism

✍ Scribed by Ian Dorval; Pascal Jézéquel; Bruno Chauvel; Christèle Dubourg; Patricia Fergelot; Jean Yves Le Gall; Michel Roussey; Martine Blayau

• Book ID: 102261602
• Publisher: John Wiley and Sons
• Year: 1995
• Tongue: English
• Weight: 194 KB
• Volume: 6
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.1380060407

✦ Synopsis

Communicated by Jean-Claude Kapla

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: AF508/R297Q and N1303K/R297Q.