CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells.
Hamosh
A
A
Center for Medical Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21287.
Rosenstein
B J
BJ
Cutting
G R
GR
D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA; D004848:Epithelium / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009297:Nasal Mucosa / Q000166:cytology / Q000378:metabolism*; D012333:RNA, Messenger / Q000378:metabolism*
C505032:CFTR protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA