A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.
Cheadle
J P
JP
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, UK.
Belloni
E
E
Ferrari
M
M
Millar-Jones
L
L
Meredith
A L
AL
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
C505032:CFTR protein, human; D018387:Codon, Initiator; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator