-
1
-
-
19444368098
-
Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers
-
Oeri J, Matter M, Isenschmid H, Hauser F, Koller F. Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers. Bibl Paediatr 1954, 58:575-88.
-
(1954)
Bibl Paediatr
, vol.58
, pp. 575-588
-
-
Oeri, J.1
Matter, M.2
Isenschmid, H.3
Hauser, F.4
Koller, F.5
-
2
-
-
0031881892
-
Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII
-
Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 1998, 100:7736.
-
(1998)
Br J Haematol
, vol.100
, pp. 7736
-
-
Peyvandi, F.1
Tuddenham, E.G.2
Akhtari, A.M.3
Lak, M.4
Mannucci, P.M.5
-
3
-
-
67549093508
-
Combined coagulation factors V and VIII deficiency: report of two Tunisian families
-
Gouider E, Bensalah N, Benkhlifa S, Hafsia R. Combined coagulation factors V and VIII deficiency: report of two Tunisian families. Tunis Med 2008, 86:842-3.
-
(2008)
Tunis Med
, vol.86
, pp. 842-843
-
-
Gouider, E.1
Bensalah, N.2
Benkhlifa, S.3
Hafsia, R.4
-
4
-
-
0031028363
-
Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping
-
Nichols WC, Seligsohn U, Zivelin A. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest 1997, 99:596-601.
-
(1997)
J Clin Invest
, vol.99
, pp. 596-601
-
-
Nichols, W.C.1
Seligsohn, U.2
Zivelin, A.3
-
5
-
-
33847651714
-
Combined deficiency of factors V and VIII: when the genetic approach explains combined deficiency in coagulation
-
Vinciguerra C, Durandb B, Rugeria L. Combined deficiency of factors V and VIII: when the genetic approach explains combined deficiency in coagulation. J. Immbio 2007, 22:41-7.
-
(2007)
J. Immbio
, vol.22
, pp. 41-47
-
-
Vinciguerra, C.1
Durandb, B.2
Rugeria, L.3
-
6
-
-
0033120795
-
ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families
-
Nichols WC, Terry VH, Wheatley MA. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood 1999, 93:2261-6.
-
(1999)
Blood
, vol.93
, pp. 2261-2266
-
-
Nichols, W.C.1
Terry, V.H.2
Wheatley, M.A.3
-
7
-
-
21844438479
-
LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway
-
Zhang B, Randal JK, Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. J Biol Chem 2005, 280:25881-6.
-
(2005)
J Biol Chem
, vol.280
, pp. 25881-25886
-
-
Zhang, B.1
Randal, J.K.2
Ginsburg, D.3
-
8
-
-
0038278822
-
Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex
-
Zhang B, Cunningham MA, Nichols WC. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003, 34:2205.
-
(2003)
Nat Genet
, vol.34
, pp. 2205
-
-
Zhang, B.1
Cunningham, M.A.2
Nichols, W.C.3
-
9
-
-
0032478548
-
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. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998, 93:61-70.
-
(1998)
Cell
, vol.93
, pp. 61-70
-
-
Nichols, W.C.1
Seligsohn, U.2
Zivelin, A.3
-
10
-
-
38949176056
-
Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency
-
Beat N, Yukiko K, Francoise B. Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. Blood 2008, 111:1299-301.
-
(2008)
Blood
, vol.111
, pp. 1299-1301
-
-
Beat, N.1
Yukiko, K.2
Francoise, B.3
-
11
-
-
0033120708
-
Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency
-
Neerman-Arbez M, Johnson KM, Morris MA. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. Blood 1999, 93:2253-60.
-
(1999)
Blood
, vol.93
, pp. 2253-2260
-
-
Neerman-Arbez, M.1
Johnson, K.M.2
Morris, M.A.3
-
12
-
-
0034981641
-
Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency
-
Dansako H, Ishimaru F, Takai Y. Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency. Ann Hematol 2001, 80:292-4.
-
(2001)
Ann Hematol
, vol.80
, pp. 292-294
-
-
Dansako, H.1
Ishimaru, F.2
Takai, Y.3
-
13
-
-
47049131483
-
Genotype-phenotype correlation in combined deficiency of factor V and factor VIII
-
Zhang B, Spreafico M, Zheng C. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. Blood 2008, 111:5592-600.
-
(2008)
Blood
, vol.111
, pp. 5592-5600
-
-
Zhang, B.1
Spreafico, M.2
Zheng, C.3
-
14
-
-
2042440439
-
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. 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. Blood Coagul Fibrinolysis 2004, 15:99-102.
-
(2004)
Blood Coagul Fibrinolysis
, vol.15
, pp. 99-102
-
-
Segal, A.1
Zivelin, A.2
Rosenberg, N.3
Ginsburg, D.4
Shpilberg, O.5
Seligsohn, U.6
-
15
-
-
55949096229
-
Combined FV and FVIII deficiency
-
Spreafico M, Peyvandi F. Combined FV and FVIII deficiency. Haemophilia 2008, 14:1201-8.
-
(2008)
Haemophilia
, vol.14
, pp. 1201-1208
-
-
Spreafico, M.1
Peyvandi, F.2
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