title: A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
authors.forename: J P
authors.initials: JP
authors.lastname: Cheadle
authors.forename: E
authors.initials: E
authors.lastname: Belloni
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: L
authors.initials: L
authors.lastname: Millar-Jones
authors.forename: A L
authors.initials: AL
authors.lastname: Meredith
mesh_terms: D018387:Codon, Initiator / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D006801:Humans; D007558:Italy; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D018387:Codon, Initiator; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator