Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
Bozon
D
D
Hôpital Debrousse, Lyon, France.
Zielenski
J
J
Rininsland
F
F
Tsui
L C
LC
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods
C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator