Identification of a new splice site mutation (3849 + 1G-->A) in the intron 19 of the CFTR gene.
Greil
I
I
University of Graz, Institute of Medical Biology and Human Genetics, Austria.
Wagner
K
K
Rosenkranz
W
W
D017398:Alternative Splicing; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis; D014158:Transcription, Genetic
C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator