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Journal Abstract Search

131 related items for PubMed ID: 10980555

  • 21.
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  • 22. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.
    Audrézet MP, Chen JM, Raguénès O, Chuzhanova N, Giteau K, Le Maréchal C, Quéré I, Cooper DN, Férec C.
    Hum Mutat; 2004 Apr; 23(4):343-57. PubMed ID: 15024729
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  • 24. Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling.
    Tomaiuolo AC, Sirleto P, Centrone C, Surace C, Alghisi F, Petrocchi S, Lombardo A, Rossi M, Torricelli F, Lucidi V, Angioni A.
    Clin Biochem; 2011 Jul; 44(10-11):799-803. PubMed ID: 21536020
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  • 25. Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10.
    Morokawa N, Iizuka S, Tanano A, Katsube A, Muraji T, Eto Y, Yoshimura K.
    Hum Mutat; 2000 May; 15(5):485. PubMed ID: 10790220
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  • 26. 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; 7(2):102-9. PubMed ID: 17662673
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  • 27. Is meconium ileus genetically determined or associated with a more severe evolution of cystic fibrosis?
    De Braekeleer M, Allard C, Leblanc JP, Aubin G, Simard F.
    J Med Genet; 1998 Mar; 35(3):262-3. PubMed ID: 9541118
    [No Abstract] [Full Text] [Related]

  • 28. Two novel frameshift deletions (1924del7, 2055del9-->A) in the CFTR gene in Mexican cystic fibrosis patients.
    Orozco L, Zielenski J, Markiewicz D, Villarreal T, Tsui LC, Lezana JL, del Angel RM.
    Hum Mutat; 1997 Mar; 10(3):239-40. PubMed ID: 9298826
    [No Abstract] [Full Text] [Related]

  • 29. Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.
    D'Apice MR, Gambardella S, Bengala M, Russo S, Nardone AM, Lucidi V, Sangiuolo F, Novelli G.
    BMC Med Genet; 2004 Apr 14; 5():8. PubMed ID: 15084222
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  • 33. [Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes].
    Schwartz M.
    Ugeskr Laeger; 2003 Feb 24; 165(9):912-6. PubMed ID: 12661515
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  • 38. Cystic fibrosis as a cause of infertility.
    Jarzabek K, Zbucka M, Pepiński W, Szamatowicz J, Domitrz J, Janica J, Wołczyński S, Szamatowicz M.
    Reprod Biol; 2004 Jul 24; 4(2):119-29. PubMed ID: 15297887
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  • 39. A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene.
    Lucarelli M, Narzi L, Piergentili R, Ferraguti G, Grandoni F, Quattrucci S, Strom R.
    Anal Biochem; 2006 Jun 15; 353(2):226-35. PubMed ID: 16635477
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