CF2603 4DELT, A NEW FRAMESHIFT MUTATION IN EXON-13 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE/

Citation
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
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
91
Issue
6
Year of publication
1993
Pages
614 - 615
Database
ISI
SICI code
0340-6717(1993)91:6<614:C4ANFM>2.0.ZU;2-#
Abstract
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.