CF2603/4delT,a new frameshift mutation in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene |
| |
Authors: | Begoña Ezquieta Jesús Molano |
| |
Affiliation: | (1) Unidad de Genética Molecular, Servicio de Bioquímica, Hospital La Paz, Paseo Castellana 261, E-28046 Madrid, Spain |
| |
Abstract: | By using temperature gradient gel electrophoresis to screen for mutations in cystic fibrosis (CF) patients, we have found a new mutation in the CF transmembrane conductance regulator gene. It is a frameshift mutation named CF2603/4delT located at the 3-end of exon 13. A thymidine at position 2603 or 2604 is lost. The mutation eliminates an MseI site and, therefore, can be screened by restriction enzyme analysis. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|