The Stop Mutation R553X in the CFTR Gene Results in Exon Skipping

• 1 January 1994
• journal article
• research article
• Published by Elsevier in Genomics
• Vol. 19  (2) , 362-364
• https://doi.org/10.1006/geno.1994.1070

Abstract

Keywords

• DNA SEQUENCE
• EPITHELIAL CELL
• MEMBRANE PROTEIN
• PROTEIN STRUCTURE
• NONSENSE MUTATION
• CHEMICAL ANALYSIS
• GENE EXPRESSION