Article
Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients.
Human mutation - 1 Jan 1995
Will K, Dörk T, Stuhrmann M, von der Hardt H, Ellemunter H, Tümmler B, Schmidtke J
Abstract excerpt
The mutational effects at the mRNA level were investigated by RT-PCR analysis of nine different nonsense mutations (Q39X, E60X, R75X, G542X, L719X, Y1092X, R1162X, S1196X, W1282X) and one frameshift mutation (1078delT) within the CFTR gene. With the exception of mutation R1162X, reduced mRNA leve...
Topics
- Alleles
- Base Sequence
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Epithelium
- Exons
- Female
- Humans
- Lymphocytes
- Male
- Membrane Proteins
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Nasal Mucosa
- Oligonucleotide Probes
- Polymerase Chain Reaction
- RNA, Messenger