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6. A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo. French PJ; van Doorninck JH; Peters RH; Verbeek E; Ameen NA; Marino CR; de Jonge HR; Bijman J; Scholte BJ J Clin Invest; 1996 Sep; 98(6):1304-12. PubMed ID: 8823295 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. A mouse model for the delta F508 allele of cystic fibrosis. Zeiher BG; Eichwald E; Zabner J; Smith JJ; Puga AP; McCray PB; Capecchi MR; Welsh MJ; Thomas KR J Clin Invest; 1995 Oct; 96(4):2051-64. PubMed ID: 7560099 [TBL] [Abstract][Full Text] [Related]
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10. [Molecular-genetic analysis of certain mutations of the "cystic fibrosis gene" in Moldavia. Characteristics of molecular markers and their linkage with various mutations]. Gimbovskaia SD; Kalinin VN; Ivashchenko TE; Baranov VS Genetika; 1994 Dec; 30(12):1616-20. PubMed ID: 7534245 [TBL] [Abstract][Full Text] [Related]
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12. A frame-shift mutation in the cystic fibrosis gene. White MB; Amos J; Hsu JM; Gerrard B; Finn P; Dean M Nature; 1990 Apr; 344(6267):665-7. PubMed ID: 1691449 [TBL] [Abstract][Full Text] [Related]
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14. [Frequency of delta F508 mutation in Venezuelan patients with cystic fibrosis]. Morales-Machin A; Borjas-Fajardo L; Pineda L; González S; Delgado W; Zabala W; Fernández E Invest Clin; 2004 Jun; 45(2):121-30. PubMed ID: 15211979 [TBL] [Abstract][Full Text] [Related]
15. In vivo cell-specific expression of the cystic fibrosis transmembrane conductance regulator. Trezise AE; Buchwald M Nature; 1991 Oct; 353(6343):434-7. PubMed ID: 1716739 [TBL] [Abstract][Full Text] [Related]
16. DeltaF508 CFTR protein expression in tissues from patients with cystic fibrosis. Kälin N; Claass A; Sommer M; Puchelle E; Tümmler B J Clin Invest; 1999 May; 103(10):1379-89. PubMed ID: 10330420 [TBL] [Abstract][Full Text] [Related]
17. [The cystic fibrosis gene: mutation and the function of CFTR protein]. Goossens M Ann Pediatr (Paris); 1991 Nov; 38(9):591-4. PubMed ID: 1721508 [TBL] [Abstract][Full Text] [Related]
18. Screening for cystic fibrosis: the importance of using the correct tools. Shah U; Moatter T J Ayub Med Coll Abbottabad; 2006; 18(1):7-10. PubMed ID: 16773960 [TBL] [Abstract][Full Text] [Related]