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2. 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]
3. Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Dalemans W; Barbry P; Champigny G; Jallat S; Dott K; Dreyer D; Crystal RG; Pavirani A; Lecocq JP; Lazdunski M Nature; 1991 Dec 19-26; 354(6354):526-8. PubMed ID: 1722027 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Denning GM; Anderson MP; Amara JF; Marshall J; Smith AE; Welsh MJ Nature; 1992 Aug; 358(6389):761-4. PubMed ID: 1380673 [TBL] [Abstract][Full Text] [Related]
6. Cystic fibrosis transmembrane conductance regulator (CFTR) and renal function. Stanton BA Wien Klin Wochenschr; 1997 Jun; 109(12-13):457-64. PubMed ID: 9261986 [TBL] [Abstract][Full Text] [Related]
7. Dysfunction of CFTR bearing the delta F508 mutation. Welsh MJ; Denning GM; Ostedgaard LS; Anderson MP J Cell Sci Suppl; 1993; 17():235-9. PubMed ID: 7511616 [TBL] [Abstract][Full Text] [Related]
8. The cystic fibrosis mutation (delta F508) does not influence the chloride channel activity of CFTR. Li C; Ramjeesingh M; Reyes E; Jensen T; Chang X; Rommens JM; Bear CE Nat Genet; 1993 Apr; 3(4):311-6. PubMed ID: 7526932 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. A 32-bp deletion (2991del32) in the cystic fibrosis gene associated with CFTR mRNA reduction. Dörk T; Will K; Grade K; Krawczak M; Tümmler B Hum Mutat; 1994; 4(1):65-70. PubMed ID: 7524915 [TBL] [Abstract][Full Text] [Related]
11. Expression of delta F508 cystic fibrosis transmembrane conductance regulator protein and related chloride transport properties in the gallbladder epithelium from cystic fibrosis patients. Dray-Charier N; Paul A; Scoazec JY; Veissière D; Mergey M; Capeau J; Soubrane O; Housset C Hepatology; 1999 Jun; 29(6):1624-34. PubMed ID: 10347100 [TBL] [Abstract][Full Text] [Related]
12. Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotes. Nunes V; Casals T; Gaona A; Antiñolo G; Ferrer-Calvete J; Pérez-Frias J; Tardío E; Molano J; Estivill X Hum Mutat; 1992; 1(5):375-9. PubMed ID: 1284539 [TBL] [Abstract][Full Text] [Related]
13. Normal function of the cystic fibrosis conductance regulator protein can be associated with homozygous (Delta)F508 mutation. Sermet-Gaudelus I; Vallée B; Urbin I; Torossi T; Marianovski R; Fajac A; Feuillet MN; Bresson JL; Lenoir G; Bernaudin JF; Edelman A Pediatr Res; 2002 Nov; 52(5):628-35. PubMed ID: 12409506 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. [A molecular study of the delta-F508 mutation and genetic analysis of a sample of cystic fibrosis patients]. Orozco L; Lezana JL; Chávez M; Valdez H; Moreno M; Carnevale A Bol Med Hosp Infant Mex; 1993 Jul; 50(7):457-62. PubMed ID: 7689846 [TBL] [Abstract][Full Text] [Related]
17. [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]
18. Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells. Shoshani T; Kerem E; Szeinberg A; Augarten A; Yahav Y; Cohen D; Rivlin J; Tal A; Kerem B J Clin Invest; 1994 Apr; 93(4):1502-7. PubMed ID: 7512981 [TBL] [Abstract][Full Text] [Related]
19. An immortalized cystic fibrosis tracheal epithelial cell line homozygous for the delta F508 CFTR mutation. Kunzelmann K; Schwiebert EM; Zeitlin PL; Kuo WL; Stanton BA; Gruenert DC Am J Respir Cell Mol Biol; 1993 May; 8(5):522-9. PubMed ID: 7683197 [TBL] [Abstract][Full Text] [Related]
20. [Correlation between phenotype and genotype in a group of patients with cystic fibrosis]. Navarro H; Kolbach M; Repetto G; Guiraldes E; Harris P; Foradori A; Poggi H; Sánchez I Rev Med Chil; 2002 May; 130(5):475-81. PubMed ID: 12143267 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]