| Literature DB >> 8680407 |
I Dorval1, P Jézéquel, B Chauvel, C Dubourg, P Fergelot, J Y Le Gall, M Roussey, M Blayau.
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.Entities:
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Year: 1995 PMID： 8680407 DOI： 10.1002/humu.1380060407
Source DB: PubMed Journal: Hum Mutat ISSN： 1059-7794 Impact factor: 4.878