FREQUENCY OF THE CFTR 2694T/G POLYMORPHISM AND ITS ASSOCIATION WITH CFTR-RELATED MONOSYMPTOMATIC DISORDERS
Nikolic A, Divac A, Kusic J, Savic A
*Corresponding Author: Dr. Aleksandra Nikolic, Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, Vojvode Stepe 444a, P. O. Box 446, 11001 Belgrade, Yugoslavia; Tel: +381-11-397-6658; Fax: +381-11-397-5808; E-mail: qwert@eunet.yu
page: 43

REFERENCES

1. Cystic Fibrosis Mutation Data Base 2002: www. genet.sickkids.on.ca/cftr.

2. Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, Nunes V, Ferec C, Estivill X: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med 1995; 332: 1475-1480.

3. Maquat LE: The power of point mutations. Nat Genet 2001; 27: 5-6.

4. Del Sal G, Manfioletti G, Schneider C: The CTAB-DNA precipitation method. Common mini-scale preparation of template DNA from phagemids, phages or plasmids suitable for sequencing. BioTechniques 1989; 7 (5): 514-519.

5. Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M: 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. Genomics 1992; 13: 770-776.

6. Radojkovic D, Kusic J: Silver staining of DGGE gels. Clin Chem 2000; 46: 883-884.

7. Bombieri C, Giorgi S, Carles S,  De Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M,


Estivill X, Pignatti PF, Modiano G: A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals. Hum Genet 2000; 106: 172-178.




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