A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient.
Balassopoulou
A
A
Unit of Prenatal Diagnosis, Laikon Hospital, Athens, Greece.
Papadakis
M
M
Loukopoulos
D
D
D000595:Amino Acid Sequence; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D006115:Greece; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic
C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator