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Journal Abstract Search

983 related items for PubMed ID: 15590401

  • 21. Fast and efficient mutation detection method using multiplex PCR and cycle sequencing--application to haemophilia B.
    Costa JM, Ernault P, Vidaud D, Vidaud M, Meyer D, Lavergne JM.
    Thromb Haemost; 2000 Feb; 83(2):244-7. PubMed ID: 10739381
    [Abstract] [Full Text] [Related]

  • 22. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review.
    Rydz N, Leggo J, Tinlin S, James P, Lillicrap D.
    Am J Hematol; 2013 Dec; 88(12):1030-4. PubMed ID: 23913812
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  • 23. Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations.
    Vidal F, Farssac E, Altisent C, Puig L, Gallardo D.
    Thromb Haemost; 2001 Apr; 85(4):580-3. PubMed ID: 11341489
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  • 24. Six novel and three recurrent mutations in nine Austrian patients with hemophilia B.
    Walter J, Pabinger-Fasching I, Watzke HH.
    Thromb Haemost; 1994 Jul; 72(1):74-7. PubMed ID: 7974379
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  • 25. [Molecular diagnosis of inherited coagulation disorders--sequence analysis of hemophilia B patients with anti-factor IX antibodies].
    Tanimoto M, Matsushita T, Takamatsu J, Saito H.
    Rinsho Byori; 1990 Sep; 38(9):1041-6. PubMed ID: 2232265
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  • 26. Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.
    Ketterling RP, Drost JB, Scaringe WA, Liao DZ, Liu JZ, Kasper CK, Sommer SS.
    Hum Mutat; 1999 Sep; 13(3):221-31. PubMed ID: 10090477
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  • 27. 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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  • 31. Three distinct point mutations in the factor IX gene of three Japanese CRM+ hemophilia B patients (factor IX BMNagoya 2, factor IX Nagoya 3 and 4).
    Hamaguchi M, Matsushita T, Tanimoto M, Takahashi I, Yamamoto K, Sugiura I, Takamatsu J, Ogata K, Kamiya T, Saito H.
    Thromb Haemost; 1991 May 06; 65(5):514-20. PubMed ID: 1871712
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  • 34. Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.
    Möller-Morlang K, Tavassoli K, Eigel A, Pollmann H, Horst J.
    Hum Mutat; 1999 May 06; 13(6):504. PubMed ID: 10408784
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  • 35. 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 06; 8(1):63-5. PubMed ID: 8028609
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  • 36. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
    Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
    Hum Mutat; 2004 Oct 06; 24(4):312-20. PubMed ID: 15365988
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  • 37. Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis.
    Taylor SA, Duffin J, Cameron C, Teitel J, Garvey B, Lillicrap DP.
    Thromb Haemost; 1992 Jan 23; 67(1):63-5. PubMed ID: 1615485
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  • 38. Detection of carrier status of hemophilia B using DNA markers.
    Ishak R, Zakaria Z.
    Southeast Asian J Trop Med Public Health; 1997 Sep 23; 28(3):629-30. PubMed ID: 9561621
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  • 39. Allele frequencies of two polymorphisms associated with the factor IX gene in Iranian population.
    Ghandil P, Ghadiri A, Farhud D, Zeinali S.
    Thromb Res; 2004 Sep 23; 113(5):289-93. PubMed ID: 15183040
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  • 40. Point mutations in four hemophilia B patients from China.
    Wang NS, Chen SH, Thompson AR.
    Thromb Haemost; 1990 Oct 22; 64(2):302-6. PubMed ID: 2270538
    [Abstract] [Full Text] [Related]

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