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Journal Abstract Search

734 related items for PubMed ID: 18624698

  • 1. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.
    Kwon MJ, Yoo KY, Kim HJ, Kim SH.
    Haemophilia; 2008 Sep; 14(5):1069-75. PubMed ID: 18624698
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  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 3. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
    Mahajan A, Chavali S, Kabra M, Chowdhury MR, Bharadwaj D.
    Haematologica; 2004 Dec; 89(12):1498-503. PubMed ID: 15590401
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  • 4. Molecular genotyping of the Italian cohort of patients with hemophilia B.
    Belvini D, Salviato R, Radossi P, Pierobon F, Mori P, Castaldo G, Tagariello G, AICE HB Study Group.
    Haematologica; 2005 May; 90(5):635-42. PubMed ID: 15921378
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  • 5. Identification of factor IX mutations in Iranian haemophilia B patients by SSCP and sequencing.
    Karimipoor M, Zeinali S, Nafissi N, Tuddenham EG, Lak M, Safaee R.
    Thromb Res; 2007 May; 120(1):135-9. PubMed ID: 17014892
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  • 6. Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.
    Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C.
    Thromb Haemost; 1999 Nov; 82(5):1437-42. PubMed ID: 10595634
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  • 7. Spectrum of factor IX gene mutations causing haemophilia B from India.
    Ghosh K, Quadros L, Shetty S.
    Blood Coagul Fibrinolysis; 2009 Jul; 20(5):333-6. PubMed ID: 19357501
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  • 8. [Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B].
    Seita I, Shinozawa K, Otaki M, Fujita S, Suzuki T, Amano K, Inaba H, Fukutake K.
    Rinsho Byori; 2009 May; 57(5):417-24. PubMed ID: 19522246
    [Abstract] [Full Text] [Related]

  • 9. Severe haemophilia B due to a 6 kb factor IX gene deletion including exon 4: non-homologous recombination associated with a shortened transcript from whole blood.
    Hsu TC, Nakaya SM, Thompson AR.
    Thromb Haemost; 2007 Feb; 97(2):176-80. PubMed ID: 17264943
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  • 11. Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B.
    Bicocchi MP, Pasino M, Rosano C, Molinari AC, Della Valle E, Lanza T, Bottini F, Acquila M.
    Haemophilia; 2006 May; 12(3):263-70. PubMed ID: 16643212
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  • 14. Five novel point mutations: two causing haemophilia B and three causing factor X deficiency.
    Odom MW, Leone G, De Stefano V, Montiel MM, Boland EJ, Anderson J, Jagadeeswaran P.
    Mol Cell Probes; 1994 Feb; 8(1):63-5. PubMed ID: 8028609
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  • 15. High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation.
    Citron M, Godmilow L, Ganguly T, Ganguly A.
    Hum Mutat; 2002 Oct; 20(4):267-74. PubMed ID: 12325022
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  • 17. Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes.
    Quadros L, Ghosh K, Shetty S.
    J Pediatr Hematol Oncol; 2009 Mar; 31(3):157-60. PubMed ID: 19262239
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  • 19. Detection of ten new mutations by screening the gene encoding factor IX of Danish hemophilia B patients.
    Nielsen LR, Scheibel E, Ingerslev J, Schwartz M.
    Thromb Haemost; 1995 May; 73(5):774-8. PubMed ID: 7482402
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  • 20. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
    Birk Møller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Güttler F, Tyfield L, Zschocke J.
    Hum Mutat; 2007 Feb; 28(2):207. PubMed ID: 17221866
    [Abstract] [Full Text] [Related]

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