| 1 |
19624459 | An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution. | 2009 Oct |
1 |
| 2 |
18637125 | N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets. | 2008 Nov |
1 |
| 3 |
16676067 | Impaired dimerization of von Willebrand factor subunit due to mutation A2801D in the CK domain results in a recessive type 2A subtype IID von Willebrand disease. | 2006 May |
1 |
| 4 |
15606553 | Impact of O-linked glycosylation of the VWF-A1-domain flanking regions on platelet interaction. | 2005 Jan |
1 |
| 5 |
15219197 | A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers. | 2004 Jul |
2 |
| 6 |
15461624 | Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. | 2004 Oct |
1 |
| 7 |
12588349 | Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity. | 2003 Feb |
2 |
| 8 |
12353070 | Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). | 2002 Sep |
1 |
| 9 |
10887119 | A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion. | 2000 Jul 15 |
1 |
| 10 |
11019957 | A new candidate missense mutation (Leu 1657 IIe) in an apparently asymptomatic type 2A (phenotype IIA) von Willebrand disease family. | 2000 Sep |
1 |
| 11 |
9845532 | A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization. | 1998 Dec 15 |
1 |
| 12 |
9129031 | A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies. | 1997 May 1 |
1 |
| 13 |
8639896 | Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics. | 1996 Apr 1 |
1 |
| 14 |
8123843 | Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease. | 1994 Mar 15 |
1 |
| 15 |
8352730 | The role of the 5'-flanking region in the cell-specific transcription of the human von Willebrand factor gene. | 1993 Aug 1 |
2 |
| 16 |
8500791 | Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. | 1993 May |
1 |
| 17 |
1537829 | Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. | 1992 Mar 5 |
2 |
| 18 |
1557393 | Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets. | 1992 Apr 1 |
3 |
| 19 |
1571548 | Preferred sequence requirements for cleavage of pro-von Willebrand factor by propeptide-processing enzymes. | 1992 May 1 |
2 |
| 20 |
2251280 | Expression of a human proprotein processing enzyme: correct cleavage of the von Willebrand factor precursor at a paired basic amino acid site. | 1990 Dec |
1 |
| 21 |
3131331 | Proteolytic cleavage of the precursor of von Willebrand factor is not essential for multimer formation. | 1988 Jun 15 |
1 |