A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis.
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. We report on a novel nonsense mutation that leads to exon skipping and the activation of a cryptic exon. Screening of genomic DNA from 700 German patients with CF uncovered four cases...
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| Udgivet i: | J Clin Invest |
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| Principais autores: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Clinical Investigation
1994
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294265/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7512993/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117172 |
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