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204 related items for PubMed ID: 7541273

  • 1.
    ; . PubMed ID:
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

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  • 5. 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 Apr 12; 4(1):65-70. PubMed ID: 7524915
    [Abstract] [Full Text] [Related]

  • 6. 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 Apr 12; 1(5):375-9. PubMed ID: 1284539
    [Abstract] [Full Text] [Related]

  • 7. 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 12; 7(2):102-9. PubMed ID: 17662673
    [Abstract] [Full Text] [Related]

  • 8. A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.
    Kälin N, Dörk T, Tümmler B.
    Hum Mutat; 1992 Mar 12; 1(3):204-10. PubMed ID: 1284535
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  • 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 12; 88(6):1880-5. PubMed ID: 1721624
    [Abstract] [Full Text] [Related]

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  • 11. Single-stranded conformation polymorphism analysis of the CFTR gene in Slovenian cystic fibrosis patients: detection of mutations and sequence variations.
    Ravnik-Glavac M, Glavac D, Komel R, Dean M.
    Hum Mutat; 1993 Dec 12; 2(4):286-92. PubMed ID: 7691352
    [Abstract] [Full Text] [Related]

  • 12. Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.
    Ravnik-Glavac M, Glavac D, Chernick M, di Sant'Agnese P, Dean M.
    Hum Mutat; 1994 Dec 12; 3(3):231-8. PubMed ID: 7517265
    [Abstract] [Full Text] [Related]

  • 13. Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC.
    Hum Mutat; 1995 Dec 12; 5(1):43-7. PubMed ID: 7537150
    [Abstract] [Full Text] [Related]

  • 14. Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.
    Ko JM, Kim GH, Kim KM, Hong SJ, Yoo HW.
    J Korean Med Sci; 2008 Oct 12; 23(5):912-5. PubMed ID: 18955805
    [Abstract] [Full Text] [Related]

  • 15. 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 12; 40(3):185-8. PubMed ID: 9401110
    [Abstract] [Full Text] [Related]

  • 16. 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 12; 18(4):296-307. PubMed ID: 11668613
    [Abstract] [Full Text] [Related]

  • 17. Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
    Chillón M, Casals T, Giménez J, Nunes V, Estivill X.
    Hum Mutat; 1994 Oct 12; 3(3):223-30. PubMed ID: 7517264
    [Abstract] [Full Text] [Related]

  • 18. Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
    Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A.
    Hum Mutat; 1994 Oct 12; 3(2):141-51. PubMed ID: 7515303
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. The stop mutation R553X in the CFTR gene results in exon skipping.
    Hull J, Shackleton S, Harris A.
    Genomics; 1994 Jan 15; 19(2):362-4. PubMed ID: 7514569
    [Abstract] [Full Text] [Related]

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