BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

175 related articles for article (PubMed ID: 20664902)

  • 1. Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency.
    Zheng W; Liu Y; Luo Y; Chen Z; Wang Y; Zhang L; Gao G; Yao Z
    Thromb Haemost; 2010 Sep; 104(3):536-43. PubMed ID: 20664902
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency].
    Zheng WD; Liu YH; Liu HF; Chen ZH; Wang Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Oct; 23(5):515-8. PubMed ID: 17029198
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Identification of three F5 gene mutations associated with inherited coagulation factor V deficiency in two Chinese pedigrees.
    Fu QH; Zhou RF; Liu LG; Wang WB; Wu WM; Ding QL; Hu YQ; Wang XF; Wang ZY; Wang HL
    Haemophilia; 2004 May; 10(3):264-70. PubMed ID: 15086325
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. [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]  

  • 7. Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: molecular characterization by in-vitro expression.
    Cai XH; Wang XF; Ding QL; Fu QH; Wang HL
    Thromb Haemost; 2007 Sep; 98(3):683-5. PubMed ID: 17849061
    [No Abstract]   [Full Text] [Related]  

  • 8. 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]  

  • 9. Modelling and expression studies of two novel mutations causing factor V deficiency.
    Delev D; Pavlova A; Heinz S; Blaise MC; Chandra T; Poetsch B; Seifried E; Oldenburg J
    Thromb Haemost; 2008 Nov; 100(5):766-72. PubMed ID: 18989519
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. [A novel mutation causes congenital factor V deficiency].
    Hou LH; Xie F; Liu XE; Zhang L; Guo YL; Dong CX; Li ZT; Yang B; Yang LH
    Zhonghua Xue Ye Xue Za Zhi; 2003 Sep; 24(9):455-9. PubMed ID: 14575586
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I; Soldà G; Spena S; Asselta R; Ghiotto R; Tenchini ML; Castaman G; Duga S
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Identification of a novel mutation of human blood coagulation FV gene associated with congenital FV deficiency].
    Fu WJ; Hou J; Wang DX; Yu RQ
    Zhonghua Xue Ye Xue Za Zhi; 2003 Mar; 24(3):119-21. PubMed ID: 12697120
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.
    Guella I; Paraboschi EM; van Schalkwyk WA; Asselta R; Duga S
    Thromb Haemost; 2011 Aug; 106(2):296-303. PubMed ID: 21614419
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.
    Erdos M; Alapi K; Balogh I; Oroszlán G; Rákóczi E; Sümegi J; Maródi L
    Exp Hematol; 2006 Nov; 34(11):1517-21. PubMed ID: 17046571
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [A novel molecular mechanism of congenital FV deficiency: mutation in the intron acceptor splice site of human blood coagulation FV gene].
    Fu WJ; Hou J; Wang DX; Yu RQ
    Zhonghua Yi Xue Za Zhi; 2003 Jan; 83(1):24-6. PubMed ID: 12757640
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
    Hernan I; Gamundi MJ; Planas E; Borràs E; Maseras M; Carballo M
    Invest Ophthalmol Vis Sci; 2011 Jun; 52(6):3723-9. PubMed ID: 21357407
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.