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Journal Abstract Search

295 related items for PubMed ID: 8470043

  • 1.
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  • 3. A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia.
    Fujihara N, Haneishi A, Yamauchi K, Terasawa F, Ito T, Ishida F, Okumura N.
    Thromb Haemost; 2010 Aug; 104(2):213-23. PubMed ID: 20589319
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  • 4. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene.
    Iida H, Ishii E, Nakahara M, Urata M, Wakiyama M, Kurihara M, Watanabe K, Kai T, Ihara K, Kinoshita S, Hamasaki N.
    Thromb Haemost; 2000 Jul; 84(1):49-53. PubMed ID: 10928469
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  • 5. A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo.
    Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, Grandone E, Di Minno G.
    Thromb Haemost; 2001 Dec; 86(6):1483-8. PubMed ID: 11776317
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  • 6. A novel Asp344Val substitution in the fibrinogen gamma chain (fibrinogen Caen) causes dysfibrinogenemia associated with thrombosis.
    Robert-Ebadi H, Le Querrec A, de Moerloose P, Gandon-Laloum S, Borel Derlon A, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):697-9. PubMed ID: 18832913
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  • 7. A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.
    Davis RL, Homer VM, George PM, Brennan SO.
    Hum Mutat; 2009 Feb; 30(2):221-7. PubMed ID: 18853456
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  • 8. Gene analyses of abnormal fibrinogens with a mutation in the gamma chain.
    Mimuro J, Muramatsu S, Maekawa H, Sakata Y, Kaneko M, Yoshitake S, Okuma M, Ito Y, Takeda Y, Matsuda M.
    Int J Hematol; 1992 Oct; 56(2):129-34. PubMed ID: 1421174
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  • 9. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
    Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML.
    Haematologica; 2002 Aug; 87(8):855-9. PubMed ID: 12161363
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  • 10. [Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
    Xu XC, Zhou RF, Wu JS, Fang Y, Wang XF, Zhai ZM, Wang HL.
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):137-9. PubMed ID: 15946523
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  • 11. Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - gamma 82 Ala-->Gly and an intron two GT-->AT splice site mutation.
    Wyatt J, Brennan SO, May S, George PM.
    Thromb Haemost; 2000 Sep; 84(3):449-52. PubMed ID: 11019970
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  • 12. Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.
    Meyer M, Bergmann F, Brennan SO.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):63-7. PubMed ID: 16607083
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  • 13. Fibrinogen Milano V: a congenital dysfibrinogenaemia with a gamma 275 Arg-->Cys substitution.
    Steinmann C, Bögli C, Jungo M, Lämmle B, Heinemann G, Wermuth B, Redaelli R, Baudo F, Furlan M.
    Blood Coagul Fibrinolysis; 1994 Aug; 5(4):463-71. PubMed ID: 7841300
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  • 14. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Aug; 43(2):91-100. PubMed ID: 9621512
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  • 15. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun; 24(2):199-215. PubMed ID: 9642100
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  • 16. Plasmic degradation of fibrinogen Paris I.
    Budzynski AZ, Marder VJ.
    J Lab Clin Med; 1976 Nov; 88(5):817-25. PubMed ID: 978044
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  • 17. Retarded and aberrant splicings caused by single exon mutation in a phosphoglycerate kinase variant.
    Ookawara T, Davé V, Willems P, Martin JJ, de Barsy T, Matthys E, Yoshida A.
    Arch Biochem Biophys; 1996 Mar 01; 327(1):35-40. PubMed ID: 8615693
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  • 18. Hypofibrinogenemia due to novel 316 Asp --> Tyr substitution in the fibrinogen Bbeta chain.
    Brennan SO, Wyatt JM, May S, De Caigney S, George PM.
    Thromb Haemost; 2001 Mar 01; 85(3):450-3. PubMed ID: 11307813
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  • 19. Fibrinogen Bastia (gamma 318 Asp-->Tyr) a novel abnormal fibrinogen characterized by defective fibrin polymerization.
    Lounes KC, Soria C, Valognes A, Turchini MF, Soria J, Koopman J.
    Thromb Haemost; 1999 Dec 01; 82(6):1639-43. PubMed ID: 10613648
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  • 20. [Inherited dysfibrinogenemia caused by Arg275His in the beta chain of fibrinogen].
    Fang Y, Wang X, Qi H, Wu W, Ding Q, Dai J, Zhou R, Wang W, Xie S, Wang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr 01; 22(2):201-3. PubMed ID: 15793786
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