title: CF2603/4delT, a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
abstract: By using temperature gradient gel electrophoresis to screen for mutations in cystic fibrosis (CF) patients, we have found a new mutation in the CF transmembrane conductance regulator gene. It is a frameshift mutation named CF2603/4delT located at the 3'-end of exon 13. A thymidine at position 2603 or 2604 is lost. The mutation eliminates an MseI site and, therefore, can be screened by restriction enzyme analysis.
authors.affiliation: Unidad de Genética Molecular, Servicio de Bioquímica, Hospital La Paz, Madrid, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Ezquieta
authors.forename: J
authors.initials: J
authors.lastname: Molano
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator