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Journal Abstract Search

217 related items for PubMed ID: 7517264

  • 21. Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
    Chillón M, Palacio A, Nunes V, Casals T, Giménez J, Estivill X.
    Hum Mutat; 1992; 1(1):75-6. PubMed ID: 1284477
    [No Abstract] [Full Text] [Related]

  • 22. Spectrum of CFTR mutations in the Middle North of Spain and identification of a novel mutation (1341G-->A). Mutation in brief no. 252. Online.
    Tellería JJ, Alonso MJ, Calvo C, Alonso M, Blanco A.
    Hum Mutat; 1999; 14(1):89. PubMed ID: 10447267
    [Abstract] [Full Text] [Related]

  • 23. A frame-shift mutation in the cystic fibrosis gene.
    White MB, Amos J, Hsu JM, Gerrard B, Finn P, Dean M.
    Nature; 1990 Apr 12; 344(6267):665-7. PubMed ID: 1691449
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  • 25. Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.
    Traystman MD, Schulte N, Colombo JL, Sammut PH, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling WJ.
    Hum Mutat; 1993 Apr 12; 2(1):7-15. PubMed ID: 7682884
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  • 26. Identification of four new mutations in the cystic fibrosis transmembrane conductance regulator gene: I148T, L1077P, Y1092X, 2183AA-->G.
    Bozon D, Zielenski J, Rininsland F, Tsui LC.
    Hum Mutat; 1994 Apr 12; 3(3):330-2. PubMed ID: 7517268
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  • 30. Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.
    Rolfini R, Cabrini G.
    J Clin Invest; 1993 Dec 12; 92(6):2683-7. PubMed ID: 7504691
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  • 31. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
    Cutting GR, Kasch LM, Rosenstein BJ, Zielenski J, Tsui LC, Antonarakis SE, Kazazian HH.
    Nature; 1990 Jul 26; 346(6282):366-9. PubMed ID: 1695717
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  • 32. [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 26; 30(12):1616-20. PubMed ID: 7534245
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  • 33. Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations.
    Eggerding FA, Iovannisci DM, Brinson E, Grossman P, Winn-Deen ES.
    Hum Mutat; 1995 Dec 26; 5(2):153-65. PubMed ID: 7538376
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  • 34. [The mutation spectrum of the CFTR gene in mucoviscidosis patients from Bashkortostan].
    Korytina GF, Viktorova TV, Ivashchenko TE, Baranov VS, Khusnutdinova EK.
    Mol Biol (Mosk); 2003 Dec 26; 37(1):61-7. PubMed ID: 12624947
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  • 35. [TUB9 polymorphism in the CFTR gene of cystic fibrosis patients, carriers, and healthy donors from the Moscow region. SSCP and restriction analyses].
    Amosenko FA, Trubnikova IS, Zakhar'ev VM, Bannikov VM, Sazonova MA, Petrova NV, Kapranov NI, Kaplinin VN.
    Genetika; 1997 Feb 26; 33(2):257-61. PubMed ID: 9162703
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  • 36. 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 Feb 26; 4(1):65-70. PubMed ID: 7524915
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  • 37. Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.
    Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan JC, Beldjord C.
    Hum Mutat; 1993 Feb 26; 2(4):306-8. PubMed ID: 7691353
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  • 38. Improved detection of CFTR mutations in Southern California Hispanic CF patients.
    Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS.
    Hum Mutat; 2001 Oct 26; 18(4):296-307. PubMed ID: 11668613
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  • 40. CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V.
    Plouvier E, Cougoureux E, Sardet A, Tournier G, Aymard P, Feldmann D.
    Ann Genet; 1997 Oct 26; 40(3):185-8. PubMed ID: 9401110
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