Severe splice site mutation preceding exon 9 of the CFTR gene.
Dörk
T
T
Klinische Forschergruppe Molekulare Pathologie der Mukoviszidose, OE 6710, Medizinische Hochschule Hannover, Germany.
Fislage
R
R
Rappen
U
U
Tümmler
B
B
D000293:Adolescent; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004200:Diseases in Twins / Q000235:genetics; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007438:Introns; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D012326:RNA Splicing; D012091:Repetitive Sequences, Nucleic Acid; D014430:Twins, Monozygotic / Q000235:genetics
C505032:CFTR protein, human; D018118:Chloride Channels; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator