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Items: 1 to 20 of 175

1.

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.

PMID:
18989519
2.

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.

3.

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.

4.
5.

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. doi: 10.3324/haematol.12934. Epub 2008 Aug 25.

6.

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
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. doi: 10.1160/TH09-10-0735. Epub 2010 Jul 20.

PMID:
20664902
8.

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. doi: 10.1016/j.thromres.2014.04.005. Epub 2014 Apr 13.

PMID:
24787990
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 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 15;102(4):1316-22. Epub 2003 Apr 24.

11.

Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype.

Yamazaki T, Nicolaes GA, Sørensen KW, Dahlbäck B.

Blood. 2002 Oct 1;100(7):2515-21.

12.

Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding.

Schrijver I, Houissa-Kastally R, Jones CD, Garcia KC, Zehnder JL.

Thromb Haemost. 2002 Feb;87(2):294-9. Review.

PMID:
11858490
13.

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.

PMID:
16476093
14.

[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
15.

[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
16.

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
17.

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. doi: 10.1111/j.1365-2516.2010.02330.x.

PMID:
20546033
18.

[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
19.

Inherited defects of coagulation factor V: the hemorrhagic side.

Asselta R, Tenchini ML, Duga S.

J Thromb Haemost. 2006 Jan;4(1):26-34. Review.

20.

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.

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