B. Ezquieta et J. Molano, CF2603 4DELT, A NEW FRAMESHIFT MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE/, Human genetics, 91(6), 1993, pp. 614-615
By using temperature gradient gel electrophoresis to screen for mutati
ons in cystic fibrosis (CF) patients, we have found a new mutation in
the CF transmembrane conductance regulator gene. It is a frameshift mu
tation named CF2603/4delT located at the 3'-end of exon 13. A thymidin
e at position 2603 or 2604 is lost. The mutation eliminates an MseI si
te and, therefore, can be screened by restriction enzyme analysis.