A novel mutation (G1249R) in exon 20 of the CFTR gene.
Dijkstra
D J
DJ
Department of Medical Genetics, University of Groningen, The Netherlands.
Scheffer
H
H
Buys
C H
CH
D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator