These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Strong TV; Smit LS; Nasr S; Wood DL; Cole JL; Iannuzzi MC; Stern RC; Collins FS Hum Mutat; 1992; 1(5):380-7. PubMed ID: 1284540 [TBL] [Abstract][Full Text] [Related]
4. Identification of a new splicing mutation (406-1 G-C) in the CFTR gene. Bonizzato A; Nicolis E; Gasparini P Hum Mutat; 1992; 1(5):432-3. PubMed ID: 1284541 [No Abstract] [Full Text] [Related]
5. Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia. Bremer S; Hoof T; Wilke M; Busche R; Scholte B; Riordan JR; Maass G; Tümmler B Eur J Biochem; 1992 May; 206(1):137-49. PubMed ID: 1375156 [TBL] [Abstract][Full Text] [Related]
6. A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. Will K; Dörk T; Stuhrmann M; Meitinger T; Bertele-Harms R; Tümmler B; Schmidtke J J Clin Invest; 1994 Apr; 93(4):1852-9. PubMed ID: 7512993 [TBL] [Abstract][Full Text] [Related]
7. A donor splice mutation (405 + 1 G-->A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA. Dörk T; Will K; Demmer A; Tümmler B Hum Mol Genet; 1993 Nov; 2(11):1965-6. PubMed ID: 7506605 [No Abstract] [Full Text] [Related]
8. Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Cheadle JP; al-Jader LN; Meredith AL Hum Mol Genet; 1993 Mar; 2(3):317-9. PubMed ID: 7684644 [No Abstract] [Full Text] [Related]
9. Abnormal mRNA splicing resulting from three different mutations in the CFTR gene. Hull J; Shackleton S; Harris A Hum Mol Genet; 1993 Jun; 2(6):689-92. PubMed ID: 7689009 [TBL] [Abstract][Full Text] [Related]
10. Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. Will K; Dörk T; Stuhrmann M; von der Hardt H; Ellemunter H; Tümmler B; Schmidtke J Hum Mutat; 1995; 5(3):210-20. PubMed ID: 7541274 [TBL] [Abstract][Full Text] [Related]
11. A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis. Crawford J; Labrinidis A; Carey WF; Nelson PV; Harvey JS; Morris CP Hum Mutat; 1995; 5(1):101-2. PubMed ID: 7537147 [No Abstract] [Full Text] [Related]
12. Unexpected inactivation of acceptor consensus splice sequence by a -3 C to T transition in intron 2 of the CFTR gene. Bienvenu T; Hubert D; Fonknechten N; Dusser D; Kaplan JC; Beldjord C Hum Genet; 1994 Jul; 94(1):65-8. PubMed ID: 7518409 [TBL] [Abstract][Full Text] [Related]
13. A nonsense mutation (R1158X) and a splicing mutation (3849 + 4A----G) in exon 19 of the cystic fibrosis transmembrane conductance regulator gene. Ronchetto P; Telleria Orriols JJ; Fanen P; Cremonesi L; Ferrari M; Magnani C; Seia M; Goossens M; Romeo G; Devoto M Genomics; 1992 Feb; 12(2):417-8. PubMed ID: 1371265 [No Abstract] [Full Text] [Related]
14. Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Zielenski J; Bozon D; Kerem B; Markiewicz D; Durie P; Rommens JM; Tsui LC Genomics; 1991 May; 10(1):229-35. PubMed ID: 1710599 [TBL] [Abstract][Full Text] [Related]
15. Omission of exon 12 in cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts. Slomski R; Schloesser M; Berg LP; Wagner M; Kakkar VV; Cooper DN; Reiss J Hum Genet; 1992 Aug; 89(6):615-9. PubMed ID: 1380942 [TBL] [Abstract][Full Text] [Related]
16. Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome. Macek M; Hamosh A; Kiesewetter S; McIntosh I; Rosenstein BJ; Cutting GR Hum Mutat; 1992; 1(6):501-2. PubMed ID: 1284542 [No Abstract] [Full Text] [Related]
17. Skipping of exon 9 in CFTR mRNA of human adult and fetal pancreas from non-CF individuals. Fonknechten N; Bienvenu T; Moriscot C; Beldjord C; Kahn A; Figarella C; Kaplan JC Hum Mol Genet; 1993 Dec; 2(12):2141-2. PubMed ID: 7509229 [No Abstract] [Full Text] [Related]
18. Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells. Hull J; Shackleton S; Harris A Hum Mol Genet; 1994 Jul; 3(7):1141-6. PubMed ID: 7526925 [TBL] [Abstract][Full Text] [Related]
19. A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. Cheadle JP; Meredith AL; al-Jader LN Hum Mol Genet; 1992 May; 1(2):123-5. PubMed ID: 1284468 [No Abstract] [Full Text] [Related]
20. Identification of a novel missense mutation G239R in exon 6a of the CFTR gene. Bienvenu T; Cazeneuve C; Fajac I; Dusser D; Hubert D; Kaplan JC; Beldjord C Hum Hered; 1995; 45(1):53-4. PubMed ID: 7534748 [No Abstract] [Full Text] [Related] [Next] [New Search]