New frameshift CF mutation 3729delAinsTCT in a Tunisian cystic fibrosis patient

Journal of Genetics

Volumn 92, Issue 1, 2013, Pages 81-83

  Fredj, Sondess Hadj ^a   Boudaya, Monia ^a   Oueslati, Sabrine ^a   Sahnoun, Safa ^a   Sahli, Chaima ^a   Siala, Hajer ^a   Boussetta, Khedija ^a   Bibi, Amina ^a   Messaoud, Taieb ^a  

^a CHILDREN S HOSPITAL   (Tunisia)

Author keywords

cystic fibrosis; mutation; Tunisian cystic fibrosis patient

Indexed keywords

EID: 84877710363     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-013-0208-4     Document Type: Article

References (7)

1. Fanen P., Ghanem N., Vidaud M., Besmond C., Martin J., Costes B. et al. 1992 Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics13, 770-776.
2. Fredj S. H., Messaoud T., Templin C., des Georges M., Fattoum S. and Claustres M. 2009 Cystic fibrosis transmembrane conductance regulator mutation spectrum in patients with cystic fibrosis in Tunisia. Genet. Test. Mol. Biomarkers13, 577-581.
3. Le Maréchal C., Audrezet M. P., Quere I., Raguenes O., Langonne S. and Ferec C. 2001 Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high performance liquid chromatography (D-HPLC): major implications for genetic counselling. Hum. Genet. 108, 290-298.
4. Loumi O., Ferec C., Mercier B., Creff J., Fercot B., Denine R. and Grangaud J. P. 2008 CFTR mutations in the Algerian population. J. Cyst. Fibros. 7, 54-59.
5. Messaoud T., Verlingue C., Denamur E., Pascaud O., Quéré I., Fattoum S. et al. 1996 Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novels mutations. Eur. J. Hum. Genet. 4, 20-24.
6. Messaoud T., Bel Haj Fredj S., Bibi A., Elion J., Férec C. and Fattoum S. 2005 Epidémiologie moléculaire de la mucoviscidose en Tunisie. Ann. Biol. Clin. 63, 627-630.
7. Miller S. A., Dykes D. D. and Polesky H. F. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215.