These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 7918041)

  • 1. Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.
    Standen GR; Bowen DJ
    Br J Haematol; 1993 Dec; 85(4):769-72. PubMed ID: 7918041
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.
    Mikkola H; Syrjälä M; Rasi V; Vahtera E; Hämäläinen E; Peltonen L; Palotie A
    Blood; 1994 Jul; 84(2):517-25. PubMed ID: 8025280
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.
    Kamura T; Okamura T; Murakawa M; Tsuda H; Teshima T; Shibuya T; Harada M; Niho Y
    J Clin Invest; 1992 Aug; 90(2):315-9. PubMed ID: 1644910
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a point mutation in factor XIII A subunit deficiency.
    Board P; Coggan M; Miloszewski K
    Blood; 1992 Aug; 80(4):937-41. PubMed ID: 1353995
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.
    Birben E; Oner R; Oner C; Gümrük F; Altay C; Gürgey A
    Br J Haematol; 2002 Jul; 118(1):278-81. PubMed ID: 12100162
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
    Castaman G; Giacomelli SH; Ivaskevicius V; Schroeder V; Kohler HP; Dragani A; Biasioli C; Oldenburg J; Madeo D; Rodeghiero F
    Haemophilia; 2008 Jan; 14(1):96-102. PubMed ID: 18028394
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.
    Mikkola H; Yee VC; Syrjälä M; Seitz R; Egbring R; Petrini P; Ljung R; Ingerslev J; Teller DC; Peltonen L; Palotie A
    Blood; 1996 Jan; 87(1):141-51. PubMed ID: 8547636
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.
    Izumi T; Hashiguchi T; Castaman G; Tosetto A; Rodeghiero F; Girolami A; Ichinose A
    Blood; 1996 Apr; 87(7):2769-74. PubMed ID: 8639893
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast.
    Coggan M; Baker R; Miloszewski K; Woodfield G; Board P
    Blood; 1995 May; 85(9):2455-60. PubMed ID: 7727776
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Application of HUMF13A01 (AAAG)n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency.
    Kangsadalampai S; Coggan M; Caglayan SH; Aktuglu G; Board PG
    Thromb Haemost; 1996 Dec; 76(6):879-82. PubMed ID: 8972004
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. Structural analysis of a missense mutation (Val414Phe) in the catalytic core domain of the factor XIII(A) subunit.
    Aslam S; Yee VC; Narayanan S; Duraisamy G; Standen GR
    Br J Haematol; 1997 Aug; 98(2):346-52. PubMed ID: 9266932
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel deletion and insertion mutations cause splicing defects, leading to severe reduction in mRNA levels of the A subunit in severe factor XIII deficiency.
    Izumi T; Nagaoka U; Saito T; Takamatsu J; Saito H; Ichinose A
    Thromb Haemost; 1998 Mar; 79(3):479-85. PubMed ID: 9531026
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency.
    Kangsadalampai S; Yenchitsomanus P; Chelvanayagam G; Sawasdee N; Laosombat V; Board P
    Eur J Haematol; 2000 Oct; 65(4):279-84. PubMed ID: 11073170
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.
    Anwar R; Gallivan L; Richards M; Khair K; Wright M; Minford A
    Haematologica; 2005 Dec; 90(12):1718-20. PubMed ID: 16330458
    [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. 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]  

  • 19. [Characterization of a large deletion that leads to congenital factor XIII deficiency].
    Otaki M; Inaba H; Shinozawa K; Fujita S; Amano K; Fukutake K
    Rinsho Byori; 2008 Mar; 56(3):187-94. PubMed ID: 18411802
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system.
    Takahashi N; Tsukamoto H; Umeyama H; Castaman G; Rodeghiero F; Ichinose A
    Blood; 1998 Apr; 91(8):2830-8. PubMed ID: 9531593
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.