A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
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Single molecule force spectroscopy data and BD- and MD simulations on the blood protein von Willebrand factorIdentification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.von Willebrand Disease.Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis.Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storageScan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets.A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.Diagnosing von Willebrand disease: genetic analysis.Molecular diagnosis of von Willebrand disease.Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations.Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactionsExponential size distribution of von Willebrand factor.Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand diseaseIdentification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF.Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.von Willebrand disease.Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers
P2860
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P2860
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
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name
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@en
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@nl
type
label
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@en
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@nl
prefLabel
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@en
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@nl
P2093
P1433
P1476
A cluster of mutations in the ...... llebrand disease: type 2A/IIE.
@en
P2093
Antje Pieconka
Barbara Zieger
Jan Jacques Michiels
Kerstin Will
Sonja Schneppenheim
Tobias Obser
Ulrich Budde
P304
P356
10.1182/BLOOD-2009-07-226324
P407
P577
2010-03-29T00:00:00Z