A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
Schaedel
C
C
Department of Paediatrics, University Hospital, Lund, Sweden.
Kristoffersson
A C
AC
Kornfält
R
R
Holmberg
L
L
D000293:Adolescent; D018118:Chloride Channels / Q000235:genetics*; D003545:Cysteine; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014443:Tyrosine
C505032:CFTR protein, human; D018118:Chloride Channels; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014443:Tyrosine; D003545:Cysteine