BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 12816860)

  • 1. Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.
    Montefusco MC; Duga S; Asselta R; Malcovati M; Peyvandi F; Santagostino E; Mannucci PM; Tenchini ML
    Blood; 2003 Nov; 102(9):3210-6. PubMed ID: 12816860
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein.
    Duga S; Montefusco MC; Asselta R; Malcovati M; Peyvandi F; Santagostino E; Mannucci PM; Tenchini ML
    Blood; 2003 Jan; 101(1):173-7. PubMed ID: 12393490
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.
    van Wijk R; Nieuwenhuis K; van den Berg M; Huizinga EG; van der Meijden BB; Kraaijenhagen RJ; van Solinge WW
    Blood; 2001 Jul; 98(2):358-67. PubMed ID: 11435304
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency.
    Paraboschi EM; Kayiran SM; Özbek N; Gürakan B; Peyvandi F; Guella I; Duga S; Asselta R
    Haemophilia; 2012 Mar; 18(2):205-10. PubMed ID: 21777354
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.
    Delev D; Pavlova A; Heinz S; Seifried E; Oldenburg J
    Haemophilia; 2009 Sep; 15(5):1143-53. PubMed ID: 19486170
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of four novel mutations in F5 associated with congenital factor V deficiency.
    Kanaji S; Kanaji T; Honda M; Nakazato S; Wakayama K; Tabata Y; Shibata S; Gondo H; Nakamura I; Node K; Miura M; Miyahara M; Okamura T; Nagumo F; Ohta S; Izuhara K
    Int J Hematol; 2009 Jan; 89(1):71-75. PubMed ID: 19052695
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency.
    Paraboschi EM; Menegatti M; Peyvandi F; Duga S; Asselta R
    Int J Mol Sci; 2019 Feb; 20(4):. PubMed ID: 30791524
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ser234Leu missense mutation in the A1 domain of factor V causing moderate factor V deficiency in a Chinese family.
    Jin PP; Wang XF; Ding QL; Fu QH; Cai XH; Shen LS; Wang HL
    Pathology; 2009; 41(6):566-71. PubMed ID: 19900106
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Severe hereditary coagulation factor V deficiency caused by two novel heterozygous mutations].
    Zhou RF; Fu QH; Xu XC; Wang WB; Wu WM; Ding QL; Xie S; Zhai ZM; Hu YQ; Wang XF; Wu JS; Wang HL
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):129-32. PubMed ID: 15946520
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Functional characterization of a novel missense mutation, His147Arg, in A1 domain of FV protein causing type II deficiency.
    Liu HC; Lin TM; Eng HL; Lin YT; Shen MC
    Thromb Res; 2014 Jul; 134(1):153-9. PubMed ID: 24787990
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene.
    Yamakage N; Ikejiri M; Okumura K; Takagi A; Murate T; Matushita T; Naoe T; Yamamoto K; Takamatsu J; Yamazaki T; Hamaguchi M; Kojima T
    Haemophilia; 2006 Mar; 12(2):172-8. PubMed ID: 16476093
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Factor V deficiency.
    Asselta R; Peyvandi F
    Semin Thromb Hemost; 2009 Jun; 35(4):382-9. PubMed ID: 19598066
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population.
    Castoldi E; Lunghi B; Mingozzi F; Muleo G; Redaelli R; Mariani G; Bernardi F
    Haematologica; 2001 Jun; 86(6):629-33. PubMed ID: 11418372
    [TBL] [Abstract][Full Text] [Related]  

  • 14. High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.
    Bernal S; Pelaez I; Alias L; Baena M; De Pablo-Moreno JA; Serrano LJ; Camero MD; Tizzano EF; Berrueco R; Liras A
    Int J Mol Sci; 2021 Sep; 22(18):. PubMed ID: 34575869
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C; Guella I; Duga S; Locatelli N; Paraboschi EM; Spreafico M; Afrasiabi A; Pechlaner C; Peyvandi F; Tenchini ML; Asselta R
    Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency.
    Cutler JA; Patel R; Rangarajan S; Tait RC; Mitchell MJ
    Haemophilia; 2010 Nov; 16(6):937-42. PubMed ID: 20546033
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype.
    Yamazaki T; Nicolaes GA; Sørensen KW; Dahlbäck B
    Blood; 2002 Oct; 100(7):2515-21. PubMed ID: 12239164
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.
    Tabibian S; Shiravand Y; Shams M; Safa M; Gholami MS; Heydari F; Ahmadi A; Rashidpanah J; Dorgalaleh A
    Semin Thromb Hemost; 2019 Jul; 45(5):523-543. PubMed ID: 31121608
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Gene analysis of five inherited factor V deficiency cases].
    Cao LJ; Wang ZY; Su YH; Yang HY; Zhao XJ; Zhang W; Yu ZQ; Bai X; Ruan CG
    Zhonghua Xue Ye Xue Za Zhi; 2008 Mar; 29(3):145-8. PubMed ID: 18788609
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Severe factor V deficiency: exon skipping in the factor V gene causing a partial deletion of the C1 domain.
    Asselta R; Montefusco MC; Duga S; Malcovati M; Peyvandi F; Mannucci PM; Tenchini ML
    J Thromb Haemost; 2003 Jun; 1(6):1237-44. PubMed ID: 12871325
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.