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Items: 1 to 20 of 25

1.

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Zhang B, Spreafico M, Zheng C, Yang A, Platzer P, Callaghan MU, Avci Z, Ozbek N, Mahlangu J, Haw T, Kaufman RJ, Marchant K, Tuddenham EG, Seligsohn U, Peyvandi F, Ginsburg D.

Blood. 2008 Jun 15;111(12):5592-600. doi: 10.1182/blood-2007-10-113951. Epub 2008 Apr 7.

2.

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.

Blood. 2006 Mar 1;107(5):1903-7. Epub 2005 Nov 22.

3.
4.

Combined deficiency of factor V and factor VIII (antihaemophilic globulin). A report of three cases.

JONES JH, RIZZA CR, HARDISTY RM, DORMANDY KM, MACPHERSON JC.

Br J Haematol. 1962 Apr;8:120-8. No abstract available.

PMID:
14452289
5.

Observations on hemophilia, parahemophilia, and coexistent hemophilia and parahemophilia; alterations in the platelets and the thromboplastin generation test.

SEIBERT RH, MARGOLIUS A Jr, RATNOFF OD.

J Lab Clin Med. 1958 Sep;52(3):449-62. No abstract available.

PMID:
13575936
6.

[Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers].

OERI J, MATTER M, ISENSCHMID H, HAUSER F, KOLLER F.

Bibl Paediatr. 1954;58:575-88. German. No abstract available.

PMID:
13229969
7.

VIPL, a VIP36-like membrane protein with a putative function in the export of glycoproteins from the endoplasmic reticulum.

Neve EP, Svensson K, Fuxe J, Pettersson RF.

Exp Cell Res. 2003 Aug 1;288(1):70-83.

PMID:
12878160
8.

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D.

Nat Genet. 2003 Jun;34(2):220-5.

PMID:
12717434
9.

From the ER to the golgi: insights from the study of combined factors V and VIII deficiency.

Nichols WC, Ginsburg D.

Am J Hum Genet. 1999 Jun;64(6):1493-8. Review. No abstract available.

10.

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.

Blood. 1999 Apr 1;93(7):2261-6.

PMID:
10090935
11.

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.

Blood. 1999 Apr 1;93(7):2253-60.

PMID:
10090934
12.

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.

Cell. 1998 Apr 3;93(1):61-70.

13.

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.

J Clin Invest. 1997 Feb 15;99(4):596-601.

14.

Combined factors V and VIII deficiency climbs onto the map.

Sadler JE.

J Clin Invest. 1997 Feb 15;99(4):555-6. Review. No abstract available.

15.

Mapping of the MR60/ERGIC-53 gene to human chromosome 18q21.3-18q22 by in situ hybridization.

Arar C, Mignon C, Mattei M, Monsigny M, Roche A, Legrand A.

Mamm Genome. 1996 Oct;7(10):791-2. No abstract available.

PMID:
8854877
16.

Coat proteins and vesicle budding.

Schekman R, Orci L.

Science. 1996 Mar 15;271(5255):1526-33. Review.

PMID:
8599108
17.

ERGIC-53, a membrane protein of the ER-Golgi intermediate compartment, carries an ER retention motif.

Schindler R, Itin C, Zerial M, Lottspeich F, Hauri HP.

Eur J Cell Biol. 1993 Jun;61(1):1-9.

PMID:
8223692
18.

Combined congenital deficiency of factor V and factor VIII.

Mazzone D, Fichera A, Praticò G, Sciacca F.

Acta Haematol. 1982;68(4):337-8. No abstract available.

19.

Combined factor V and factor VIII deficiency among non-Ashkenazi Jews.

Seligsohn U, Zivelin A, Zwang E.

N Engl J Med. 1982 Nov 4;307(19):1191-5. No abstract available.

PMID:
6811896
20.

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