Similar articles for PMID: 10090935

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1

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U. Nichols WC, et al. Blood. 1999 Apr 1;93(7):2261-6. Blood. 1999. PMID: 10090935 Free article.

2

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

Neerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EG. Neerman-Arbez M, et al. Blood. 1999 Apr 1;93(7):2253-60. Blood. 1999. PMID: 10090934 Free article.

3

Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII.

Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D. Nichols WC, et al. Cell. 1998 Apr 3;93(1):61-70. doi: 10.1016/s0092-8674(00)81146-0. Cell. 1998. PMID: 9546392 Free article.

4

Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency.

Dansako H, Ishimaru F, Takai Y, Tomoda J, Nakase K, Fujii K, Ogama Y, Kozuka T, Sezaki N, Honda K, Harada M. Dansako H, et al. Ann Hematol. 2001 May;80(5):292-4. doi: 10.1007/s002770000283. Ann Hematol. 2001. PMID: 11446732

5

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.

Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I, Peyvandi F. Mohanty D, et al. Am J Hematol. 2005 Aug;79(4):262-6. doi: 10.1002/ajh.20397. Am J Hematol. 2005. PMID: 16044454 Free article.

6

Two new mutations at ERGIC-53 gene in a Turkish family.

Torun D, Yilmaz E, Atay A, Kürekçi E, Akar N. Torun D, et al. Clin Appl Thromb Hemost. 2011 Jun;17(3):248-50. doi: 10.1177/1076029609355153. Epub 2010 May 11. Clin Appl Thromb Hemost. 2011. PMID: 20460353 Free article.

7

A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.

Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U. Segal A, et al. Blood Coagul Fibrinolysis. 2004 Jan;15(1):99-102. doi: 10.1097/00001721-200401000-00016. Blood Coagul Fibrinolysis. 2004. PMID: 15166951

8

Combined factors V and VIII deficiency--the solution.

Ginsburg D, Nichols WC, Zivelin A, Kaufman RJ, Seligsohn U. Ginsburg D, et al. Haemophilia. 1998 Jul;4(4):677-82. doi: 10.1046/j.1365-2516.1998.440677.x. Haemophilia. 1998. PMID: 9873813 Free article.

9

Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

Nichols WC, Seligsohn U, Zivelin A, Terry VH, Arnold ND, Siemieniak DR, Kaufman RJ, Ginsburg D. Nichols WC, et al. J Clin Invest. 1997 Feb 15;99(4):596-601. doi: 10.1172/JCI119201. J Clin Invest. 1997. PMID: 9045860 Free PMC article.

10

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Zhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufman RJ, Nichols WC, Tuddenham EG, Ginsburg D. Zhang B, et al. Blood. 2006 Mar 1;107(5):1903-7. doi: 10.1182/blood-2005-09-3620. Epub 2005 Nov 22. Blood. 2006. PMID: 16304051 Free PMC article.

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