A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA.
Dörk
T
T
Klinische Forschergruppe Molekulare Pathologie der Mukoviszidose, Medizinische Hochschule Hannover, Germany.
Will
K
K
Demmer
A
A
Tümmler
B
B
D000225:Adenine; D000328:Adult; D017398:Alternative Splicing; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D004848:Epithelium / Q000378:metabolism; D005091:Exons; D005260:Female; D006147:Guanine; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000096:biosynthesis / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism*
C505032:CFTR protein, human; D017931:DNA Primers; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006147:Guanine; D000225:Adenine