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248 related items for PubMed ID: 10425036

  • 1. Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.
    Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD.
    Hum Mutat; 1999; 14(2):133-44. PubMed ID: 10425036
    [Abstract] [Full Text] [Related]

  • 2. The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
    Chiba-Falek O, Kerem E, Shoshani T, Aviram M, Augarten A, Bentur L, Tal A, Tullis E, Rahat A, Kerem B.
    Genomics; 1998 Nov 01; 53(3):276-83. PubMed ID: 9799593
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  • 3. Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene.
    Tzetis M, Efthymiadou A, Doudounakis S, Kanavakis E.
    Hum Genet; 2001 Dec 01; 109(6):592-601. PubMed ID: 11810271
    [Abstract] [Full Text] [Related]

  • 4. 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 Dec 01; 1(5):380-7. PubMed ID: 1284540
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  • 5. Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.
    Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD.
    Am J Respir Cell Mol Biol; 2002 Nov 01; 27(5):619-27. PubMed ID: 12397022
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  • 6. Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.
    Highsmith WE, Burch LH, Zhou Z, Olsen JC, Strong TV, Smith T, Friedman KJ, Silverman LM, Boucher RC, Collins FS, Knowles MR.
    Hum Mutat; 1997 Nov 01; 9(4):332-8. PubMed ID: 9101293
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  • 10. Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.
    Costantino L, Rusconi D, Soldà G, Seia M, Paracchini V, Porcaro L, Asselta R, Colombo C, Duga S.
    Am J Respir Cell Mol Biol; 2013 May 01; 48(5):619-25. PubMed ID: 23349053
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  • 11. Isolation of CF cell lines corrected at DeltaF508-CFTR locus by SFHR-mediated targeting.
    Bruscia E, Sangiuolo F, Sinibaldi P, Goncz KK, Novelli G, Gruenert DC.
    Gene Ther; 2002 Jun 01; 9(11):683-5. PubMed ID: 12032687
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  • 12. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations.
    Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H.
    J Cyst Fibros; 2008 Mar 01; 7(2):102-9. PubMed ID: 17662673
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  • 14. CFTR protein analysis of splice site mutation 2789+5 G-A.
    van Barneveld A, Stanke F, Claass A, Ballmann M, Tümmler B.
    J Cyst Fibros; 2008 Mar 01; 7(2):165-7. PubMed ID: 17707141
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  • 16. High incidence of the CFTR mutations 3272-26A-->G and L927P in Belgian cystic fibrosis patients, and identification of three new CFTR mutations (186-2A-->G, E588V, and 1671insTATCA).
    Storm K, Moens E, Vits L, De Vlieger H, Delaere G, D'Hollander M, Wuyts W, Biervliet M, Van Schil L, Desager K, Nöthen MM.
    J Cyst Fibros; 2007 Nov 30; 6(6):371-5. PubMed ID: 17481968
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  • 17. CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium.
    Dupuit F, Kälin N, Brézillon S, Hinnrasky J, Tümmler B, Puchelle E.
    J Clin Invest; 1995 Sep 30; 96(3):1601-11. PubMed ID: 7544810
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  • 18. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.
    Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.
    Hum Mutat; 2004 Aug 30; 24(2):120-9. PubMed ID: 15241793
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  • 19. 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 Aug 30; 5(3):210-20. PubMed ID: 7541274
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  • 20. [Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].
    Repetto G, Poggi H, Harris P, Navarro H, Sánchez I, Guiraldes E, Pérez MA, Boza ML, Hunter B, Wevar ME, Mediavilla M, Foradori A.
    Rev Med Chil; 2001 Aug 30; 129(8):841-7. PubMed ID: 11680956
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