176 related articles for article (PubMed ID: 12393490)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
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. Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized.
Steen M; Miteva M; Villoutreix BO; Yamazaki T; Dahlbäck B
Blood; 2003 Aug; 102(4):1316-22. PubMed ID: 12714495
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion, that cause factor V deficiency.
Shinozawa K; Amano K; Suzuki T; Tanaka A; Iijima K; Takahashi H; Inaba H; Fukutake K
Int J Hematol; 2007 Dec; 86(5):407-13. PubMed ID: 18192108
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation.
Calzavarini S; Villoutreix BO; Lunghi B; Livaja R; Bernardi F; Dahlbäck B
Thromb Haemost; 2013 Jul; 110(1):31-8. PubMed ID: 23616041
[TBL] [Abstract][Full Text] [Related]
13. Factor V Arg2074Cys: a novel missense mutation in the C2 domain of factor V.
Bossone A; D'Angelo F; Santacroce R; De Lucia D; Margaglione M
Thromb Haemost; 2002 May; 87(5):923-4. PubMed ID: 12038802
[No Abstract] [Full Text] [Related]
14. Asp68His mutation in the A1 domain of human factor V causes impaired secretion and ineffective translocation.
Liu HC; Shen MC; Eng HL; Wang CH; Lin TM
Haemophilia; 2014 Jul; 20(4):e318-26. PubMed ID: 24893683
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. [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]
18. 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]
19. [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]
20. Factor V deficiency.
Asselta R; Peyvandi F
Semin Thromb Hemost; 2009 Jun; 35(4):382-9. PubMed ID: 19598066
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
