Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients (Q45862187)

17 December 2017

title

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

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17 December 2017

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4

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Pier Mannuccio Mannucci

7

object named as

Pier Mannuccio Mannucci

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17 December 2017

Luciano Baronciani

1

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17 December 2017

Giovanna Cozzi

2

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17 December 2017

Maria Teresa Canciani

3

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Alok Srivastava

5

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Augusto B Federici

6

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language of work or name

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1 May 2003

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Blood Cells, Molecules and Diseases

published in

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17 December 2017

volume

30

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issue

3

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17 December 2017

page(s)

264-270

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17 December 2017

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

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

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7 January 2021

Identification of disulfide-bridged substructures within human von Willebrand factor

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Induction of specific storage organelles by von Willebrand factor propolypeptide

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Atherosclerosis and von Willebrand factor. I. Prevalence of severe von Willebrand's disease in western Europe and Israel

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

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7 January 2021

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

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7 January 2021

Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin

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7 January 2021

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

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7 January 2021

Homozygous gene conversion in von Willebrand factor gene as a cause of type 3 von Willebrand disease and predisposition to inhibitor development

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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Precipitating antibodies in von Willebrand's disease

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7 January 2021

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

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

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

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

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Improved splice site detection in Genie

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Identifiers

DOI

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17 December 2017

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17 December 2017