Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients

Improved Splice Site Detection in Genie

1997 • 1,490 citations

Improved splice site detection in Genie

1997 • 1,466 citations

The structure and evolution of the human β-globin gene family

1980 • 1,398 citations

A Revised Classification of von Willebrand Disease

1994 • 595 citations

Structure of the gene for human von Willebrand factor

1989 • 497 citations

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

1991 • 491 citations

von Willebrand factor and von Willebrand disease [published erratum appears in Blood 1988 Mar;71(3):830]

1987 • 435 citations

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1990 • 386 citations

von Willebrand factor and von Willebrand disease [published erratum appears in Blood 1988 Mar;71(3):830]

1987 • 311 citations

Induction of specific storage organelles by von Willebrand factor propolypeptide

1991 • 276 citations

Identification of disulfide-bridged substructures within human von Willebrand factor

1987 • 262 citations

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

1991 • 235 citations

cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms

1986 • 204 citations

Gene deletions correlate with the development of alloantibodies in von Willebrand disease.

1987 • 170 citations

Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor

1996 • 139 citations

Expression of variant von Willebrand factor (vWF) cDNA in heterologous cells: requirement of the pro-polypeptide in vWF multimer formation.

1987 • 127 citations

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.

1988 • 102 citations

Genetic heterogeneity of severe von Willebrand disease type III in the German population

1994 • 96 citations

Atherosclerosis and von Willebrand factor

1984 • 93 citations

Characterization of the Genetic Defects in Recessive Type 1 and Type 3 von Willebrand Disease Patients of Italian Origin

1998 • 92 citations

Characterization of the von Willebrand Factor Gene (VWF) in von Willebrand Disease Type III Patients from 24 Families of Swedish and Finnish Origin

1994 • 92 citations

Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease

2001 • 83 citations

Molecular Characterization of a Multiethnic Group of 21 Patients with Type 3 von Willebrand Disease

2000 • 73 citations

Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual

1990 • 71 citations

Two novel type 2N von Willebrand disease–causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor

2000 • 71 citations

The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF

2002 • 71 citations

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.

1992 • 66 citations

A novel von Willebrand disease–causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in defective multimerization and secretion

2000 • 66 citations

Precipitating antibodies to factor VIII/von Willebrand factor in von Willebrand's disease: effects on replacement therapy

1981 • 65 citations

Mutations in Severe, Type III von Willebrand’s Disease in the Dutch Population: Candidate Missense and Nonsense Mutations Associated with Reduced Levels of von Willebrand Factor Messenger RNA

1992 • 58 citations

A Standard Nomenclature for von Willebrand Factor Gene Mutations and Polymorphisms

2001 • 55 citations

Precipitating antibodies in von Willebrand's disease

1976 • 54 citations

Structure and Function of Fibrinogen: Insights from Dysfibrinogens

1999 • 47 citations

Requirement for both D domains of the propolypeptide in von Willebrand factor multimerization and storage.

1993 • 43 citations

Familial incidence of precipitating antibodies in von Willebrand's disease: a study of four cases.

1979 • 39 citations

A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients

1992 • 38 citations

Requirement for Both D Domains of the Propolypeptide in von Willebrand Factor Muitimerization and Storage

1993 • 34 citations

Characterization of Partial Gene Deletions in Type III von Willebrand Disease with Alloantibody Inhibitors

1994 • 28 citations

A stop codon in a patient with severe type III von Willebrand disease [letter]

1991 • 25 citations

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 • 20 citations

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. SHORT REPORT

2000 • 18 citations