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Items: 1 to 20 of 121

1.

Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency.

Cao L, Wang Z, Li H, Wang W, Zhao X, Zhang W, Ding J, Ruan C.

Haemophilia. 2011 Jan;17(1):65-9. doi: 10.1111/j.1365-2516.2010.02369.x. Epub 2010 Aug 16.

PMID:
20722745
2.

[Prenatal diagnosis for two families of congenital factor V deficiency].

Cao LJ, Wang ZY, Li H, Wang W, Zhang W, Ding J, Yu ZQ, Bai X, Ruan CG.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):679-82. doi: 10.3760/cma.j.issn.1003-9406.2011.06.018. Chinese.

PMID:
22161104
3.

[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. Chinese.

PMID:
15946520
4.

[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. Chinese.

PMID:
17029198
5.

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.

PMID:
15086325
6.

[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. Chinese.

PMID:
18788609
7.

[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. Chinese.

PMID:
12697120
8.

[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. Chinese.

PMID:
14575586
9.

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. doi: 10.1111/j.1365-2516.2009.02048.x. Epub 2009 May 26.

PMID:
19486170
10.

Factor V deficiency.

Asselta R, Peyvandi F.

Semin Thromb Hemost. 2009 Jun;35(4):382-9. doi: 10.1055/s-0029-1225760. Epub 2009 Jul 13. Review.

PMID:
19598066
11.

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency.

van Wijk R, Montefusco MC, Duga S, Asselta R, van Solinge W, Malcovati M, Tenchini ML, Mannucci PM.

Br J Haematol. 2001 Sep;114(4):871-4.

PMID:
11564077
12.

Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene.

Guasch JF, Cannegieter S, Reitsma PH, van't Veer-Korthof ET, Bertina RM.

Br J Haematol. 1998 Apr;101(1):32-9.

PMID:
9576178
13.

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.

PMID:
19900106
14.

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.

15.
16.

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.

17.

Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma.

Castoldi E, Duckers C, Radu C, Spiezia L, Rossetto V, Tagariello G, Rosing J, Simioni P.

J Thromb Haemost. 2011 May;9(5):959-68. doi: 10.1111/j.1538-7836.2011.04237.x.

18.

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 15;98(2):358-67.

19.

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 1;101(1):173-7. Epub 2002 Aug 15.

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