1. Thomas FB. Cystic fibrosis. In: Nelson Textbook of Pediatrics (16th edition), Behrman RE, Kliegman RM, Jenson HB (eds). W.B. Saunders Company, Philadelphia, PA, USA. 2000; 1315-1326.
2. Welsh MJ, Tsui L-C, Boat TF, Beaudet AL. Cystic fibrosis. In: The Metabolic and Molecular Basis of Inherited Diseases, Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York, NY, USA. 1995; 3799-3876.
3. Dean M, Santis G. Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations. Hum Genet 1994; 93: 364-368.
4. McCrae WM, Wiliamson R. Cystic fibrosis. In: Principles and Practice of Medical Genetics (2nd edition), Emery AEH, Rimion DL (eds). Churchill Livingstone, Edinburgh, Scotland, UK. 1990; 1165-1173.
5. Rommens JM, Iannuzzi MC, Kerem B-s, Drum ML, Melmer G, Dean M, Rozmahel R, Cole JL, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan JR, Tsui L-C, Colins FS. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245: 1059-1065.
6. Riordan JR, Rommens JM, Kerem B-s, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavcic N, Chou J-L, Drum ML, Iannuzzi MC, Collins FS, Tsui L-C. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245: 1066-1072.
7. Kerem B-s, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui L-C. Identification of the cystic fibrosis gene: genetic analysis. Science, 1989; 245: 1073-1080.
8. Estivill H, Bamcells C, Ramos C and Biomed CF Mutation Analysis Consortium. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. Hum Mut 1997; 10: 135-154.
9. Simova L, Williams C, Efremov GD, Gordova-Muratovska A, Fustic S, Watson EK, Wiliamson R. DF508 frequency and associated haplotypes near the cystic fibrosis locus in the Yugoslav population. Hum Genet 1990; 85: 432-433
10. Petreska L, Koceva S, Plaseska D, Chernick M, Gordova-Muratovska A, Fustic S, Nestorov R, Efremov GD. Molecular basis of cystic fibrosis in the republic of Macedonia. Clin Genet 1998; 54: 203-209.
11. Scheffer F, Varlind E, Penninga D, Meerman G, Ten Kate L, Byus C. Rapid screening for DF508 deletion in cystic fibrosis. The Lancet 1989; ii: 1345-1346.
12. Kerem B, Zielenski J, Markiewicz D, Bozon D, Gazit E, Yahaf J, Kennedy D, Riordan JR, Colins FS, Rommens JR, Tsui L-C. Identification of mutations in regions corresponding to the 2 putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 1990; 87: 8447-8451.
13. Osborne L, Knight RA, Santis G, Hodson M, A mutation on the second nucleotide binding fold of cystic fibrosis gene. Am J Hum Genet 1991; 48: 608-612.
14. Hamosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh C, Rosenstein BJ, Crystal RG, Cutting GR. Severe deficiency of CFTR mRNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991; 88: 1880-1885.
15. CFGAC. Cystic Fibrosis Genetic Analysis Consortium Newsletters 1997.
16. Orita M, Suzuki Y, Sekiya T, Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-879.
17. Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mut 1993; 2: 185-191.
18. Fanen P, Ghanem N, Vidaud M, Besmondo C, Martin J, Costes B, Plassa F, Goossens M. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992; 13: 770-776.
19. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci USA 1977; 74: 5463-5467.
20. Feldman GL, Williamson R, Beaudet AL, O’Brien WE. Pre-natal diagnosis of cystic fibrosis by DNA amplification for detection of KM19 polymorphism. The Lancet 1988; II: 102.
21. Petreska L, Koceva S, Gordova-Muratovska A, Nestorov R, Efremov GD. Identification of two new mutations (711+3A®G and V1397E) in CF chromosomes of Albanian and Macedonian origin. Hum Molec Genet 1994; 3: 999-1000.
22. Petreska L, Plaseska D, Koceva S, Efremov GD A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. Hum Mutat 1996; 7: 374-375.
23. Petreska L, Koceva S, Efremov GD. A donor splice site mutation (1811+1G®C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin. Hum Mutat 1996; 7: 375-376.
24. Petreska L, Plaseska D, Koceva S, Stavljenic-Rukavina A, Efremov GD. Two new mutations (1811+1G®C and Y569C) identified in the CFTR gene in patients of Macedonian and Croatian origin. Acta Med Croatica 1996; 50: 125-127.
25. Petreska L, Koceva S, Gordova-Muratovska A, Efremov GD. A new polymorphism in exon 7 of the cystic fibrosis transmembrane regulator (CFTR) gene. Hum Genet 1995; 95: 465-466.
26. Kalaydjieva L, Antov J, Bronzova J, Vladimirova V, Horst J. Molecular data on cystic fibrosis in Bulgaria. Hum Genet 1990; 85: 412-413.
27. Balassopoulou A, Loucopoulos D, Kollia P, Devoto M, Adam G, Arvanitakis S, Hadjisevastou H. Cystic fibrosis in Greece: typing with DNA probes and identification of the common molecular defect. Hum Genet 1990; 85: 393-394.
28. Dabovic BB, Radojkovic D, Minic P, Savic J, Savic A. Frequency of DF508 deletion and G551D, R553X and G542X mutations in Yugoslav CF patients. Hum Genet 1992; 88: 699-700.
29. Dork T, Mekus F, Schmidt K, Bolnammer J, Fislage R, Heuer T, Dziadek V, et al. Detection of more than 50 different CFTR mutations in a large group of cystic fibrosis patients. Hum Genet 1994; 94: 533-542.
30. Claustres M, Laussel M, Desgeorges M, Giansily M, Culard J-F, Razacatsara G, Demaille J. Analysis of the 27 exons and flanking regions of cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France. Hum Mol Genet 1993; 2: 1209-1213.
