BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 19642362)

  • 1. [Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency].
    Zheng WD; Liu YH; He QY; Chen ZH; Fan XB; Liu HF
    Zhonghua Xue Ye Xue Za Zhi; 2009 Mar; 30(3):158-61. PubMed ID: 19642362
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Identification of genetic defects in a Chinese pedigree with factor XIII deficiency: case report and literature review].
    Xu G; Liang Q; Zhang L; Shen Y; Ding Q; Wang X; Wang H
    Zhonghua Xue Ye Xue Za Zhi; 2015 Oct; 36(10):844-8. PubMed ID: 26477763
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.
    Borhany M; Handrkova H; Cairo A; Schroeder V; Fatima N; Naz A; Amanat S; Shamsi T; Peyvandi F; Kohler HP
    Haemophilia; 2014 Jul; 20(4):568-74. PubMed ID: 24329762
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations.
    Ivaskevicius V; Windyga J; Baran B; Schroeder V; Junen J; Bykowska K; Seifried E; Kohler HP; Oldenburg J
    Haemophilia; 2007 Sep; 13(5):649-57. PubMed ID: 17880458
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
    Katona É; Muszbek L; Devreese K; Kovács KB; Bereczky Z; Jonkers M; Shemirani AH; Mondelaers V; Ermens AA
    Haemophilia; 2014 Jan; 20(1):114-20. PubMed ID: 24118344
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Identification of two novel mutation in two Chinese hereditary coagulation factor XIII deficiency families].
    Duan B; Wang H; Chu H; Wang X; Qu B; Li D; Wang H; Yin J; Kang W; Wang Z
    Zhonghua Xue Ye Xue Za Zhi; 2002 Mar; 23(3):117-20. PubMed ID: 12015062
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Identification of a novel mutation of F (13) A gene in a pedigree with factor XIII deficiency].
    Jiao WY; Wu JS; Ding QL; Wang XF; Xu XC; Ding KY; Liu X
    Zhonghua Xue Ye Xue Za Zhi; 2007 Sep; 28(9):598-601. PubMed ID: 18246815
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital deficiency of factor XIII caused by two missense mutations in a Dutch family.
    Onland W; Böing AN; Meijer AB; Schaap MC; Nieuwland R; Haasnoot K; Sturk A; Peters M
    Haemophilia; 2005 Sep; 11(5):539-47. PubMed ID: 16128900
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular modeling predicts structural changes in the A subunit of factor XIII caused by two novel mutations identified in a neonate with severe congenital factor XIII deficiency.
    Souri M; Yee VC; Fujii N; Ichinose A
    Thromb Res; 2012 Sep; 130(3):506-10. PubMed ID: 22633530
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [A novel genetic defect in a Chinese family with inherited coagulation factor XIII deficiency].
    Wu SY; Wang ZY; Dong NZ; Zhang W; Bai X; Ruan CG
    Zhonghua Xue Ye Xue Za Zhi; 2006 Mar; 27(3):145-9. PubMed ID: 16792911
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
    Ma S; Chen C; Liang Q; Wu X; Wang X; Wu W; Liu Y; Ding Q
    Orphanet J Rare Dis; 2019 Jul; 14(1):182. PubMed ID: 31340840
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency.
    Deng J; Li D; Mei H; Tang L; Wang HF; Hu Y
    BMC Med Genet; 2020 Jan; 21(1):9. PubMed ID: 31914974
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Molecular mechanisms of Arg77Cys missense mutation and Arg174stop nonsense mutation of factor XIII A gene causing severe factor XIII deficiency].
    Zheng WD; Liu YH; Luo Y; Yao ZB
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2011 Dec; 19(6):1456-61. PubMed ID: 22169303
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
    Mikkola H; Muszbek L; Laiho E; Syrjälä M; Hämäläinen E; Haramura G; Salmi T; Peltonen L; Palotie A
    Blood; 1997 Feb; 89(4):1279-87. PubMed ID: 9028951
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel and one recurrent missense mutation in the factor XIII A gene in two Dutch patients with factor XIII deficiency.
    Gómez García EB; Poort SR; Stibbe J; Sturk A; Schaap MC; Kappers M; Bertina RM
    Br J Haematol; 2001 Feb; 112(2):513-8. PubMed ID: 11167856
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.
    Yan L; Wang T; Qiu J; Zhang X; Peng J; Fang Y; Sheng Z
    Int J Hematol; 2023 Jul; 118(1):26-35. PubMed ID: 37059930
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families.
    Vysokovsky A; Saxena R; Landau M; Zivelin A; Eskaraev R; Rosenberg N; Seligsohn U; Inbal A
    J Thromb Haemost; 2004 Oct; 2(10):1790-7. PubMed ID: 15456491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.
    Souri M; Biswas A; Misawa M; Omura H; Ichinose A
    Haemophilia; 2014 Mar; 20(2):255-62. PubMed ID: 24286209
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.
    Jang MA; Park YS; Lee KO; Kim HJ
    Blood Coagul Fibrinolysis; 2015 Jan; 26(1):46-9. PubMed ID: 25004025
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency.
    Jia S; He Y; Lu M; Liao N; Lei Y; Lauriane N; Liang K; Wei H
    Gene; 2019 Jun; 702():143-147. PubMed ID: 30935919
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.