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4. Sequence analysis of the cystic fibrosis gene in patients with disseminated bronchiectatic lung disease. Application in the identification of a cystic fibrosis patient with atypical clinical course. Poller W; Faber JP; Scholz S; Olek K; Müller KM Klin Wochenschr; 1991 Sep; 69(14):657-63. PubMed ID: 1749205 [TBL] [Abstract][Full Text] [Related]
6. Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy. Devoto M; Ronchetto P; Fanen P; Orriols JJ; Romeo G; Goossens M; Ferrari M; Magnani C; Seia M; Cremonesi L Am J Hum Genet; 1991 Jun; 48(6):1127-32. PubMed ID: 1709778 [TBL] [Abstract][Full Text] [Related]
7. Absence of mutations in the interspecies conserved regions of the CFTR promoter region in cystic fibrosis (CF) and CF related patients. Verlingue C; Vuillaumier S; Mercier B; Le Gac M; Elion J; Férec C; Denamur E J Med Genet; 1998 Feb; 35(2):137-40. PubMed ID: 9507393 [TBL] [Abstract][Full Text] [Related]
8. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. Hamosh A; Trapnell BC; Zeitlin PL; Montrose-Rafizadeh C; Rosenstein BJ; Crystal RG; Cutting GR J Clin Invest; 1991 Dec; 88(6):1880-5. PubMed ID: 1721624 [TBL] [Abstract][Full Text] [Related]
9. Molecular and clinical findings in Austrian cystic fibrosis patients with mutations in exon 11 of the CFTR gene. Greil I; Wagner K; Eber E; Zach M; Rosenkranz W Wien Klin Wochenschr; 1995; 107(15):464-9. PubMed ID: 7545856 [TBL] [Abstract][Full Text] [Related]
10. Genotype and phenotype in cystic fibrosis. Zielenski J Respiration; 2000; 67(2):117-33. PubMed ID: 10773783 [TBL] [Abstract][Full Text] [Related]
11. Identification of 12 novel mutations in the CFTR gene. Audrézet MP; Mercier B; Guillermit H; Quéré I; Verlingue C; Rault G; Férec C Hum Mol Genet; 1993 Jan; 2(1):51-4. PubMed ID: 7683952 [TBL] [Abstract][Full Text] [Related]
12. Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Ghanem N; Costes B; Girodon E; Martin J; Fanen P; Goossens M Genomics; 1994 May; 21(2):434-6. PubMed ID: 7522211 [TBL] [Abstract][Full Text] [Related]
13. Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. Cremonesi L; Ferrari M; Belloni E; Magnani C; Seia M; Ronchetto P; Rady M; Russo MP; Romeo G; Devoto M Hum Mutat; 1992; 1(4):314-9. PubMed ID: 1284538 [TBL] [Abstract][Full Text] [Related]
14. A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. Dörk T; Kälin N; Stuhrmann M; Schmidtke J; Tümmler B Hum Genet; 1992 Nov; 90(3):279-84. PubMed ID: 1283149 [TBL] [Abstract][Full Text] [Related]
15. Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations. Ravnik-Glavac M; Glavac D; Komel R; Dean M Hum Mutat; 1993; 2(4):286-92. PubMed ID: 7691352 [TBL] [Abstract][Full Text] [Related]
16. CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease. Tzetis M; Efthymiadou A; Strofalis S; Psychou P; Dimakou A; Pouliou E; Doudounakis S; Kanavakis E Hum Genet; 2001 Mar; 108(3):216-21. PubMed ID: 11354633 [TBL] [Abstract][Full Text] [Related]
17. Analysis of CA/GT microsatellite polymorphism in IVS8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a study of Italian CF families. Restagno G; Garnerone S; Gennaro C; Ferrone M; Carbonara A Clin Genet; 1992 Dec; 42(6):309-13. PubMed ID: 1283566 [TBL] [Abstract][Full Text] [Related]
18. Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes. Chillón M; Casals T; Giménez J; Ramos MD; Palacio A; Morral N; Estivill X; Nunes V Hum Genet; 1994 Apr; 93(4):447-51. PubMed ID: 7513293 [TBL] [Abstract][Full Text] [Related]
19. [Frequency of mutations and genotypes of the CFTR gene in cystic fibrosis adults in Poland]. Witt M; Pogorzelski A; Bal J; Rutkiewicz E; Majka L; Sobczyńska A Pneumonol Alergol Pol; 1999; 67(3-4):137-41. PubMed ID: 10497446 [TBL] [Abstract][Full Text] [Related]
20. Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? Casals T; De-Gracia J; Gallego M; Dorca J; Rodríguez-Sanchón B; Ramos MD; Giménez J; Cisteró-Bahima A; Olveira C; Estivill X Clin Genet; 2004 Jun; 65(6):490-5. PubMed ID: 15151509 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]