Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
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Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretionPathophysiology of thrombotic thrombocytopenic purpuraSingle molecule force spectroscopy data and BD- and MD simulations on the blood protein von Willebrand factorThe mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.The molecular biology of von Willebrand disease.Von Willebrand factor and von Willebrand disease.Nonsense-mediated decay in genetic disease: friend or foe?Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases.NMD: RNA biology meets human genetic medicine.von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactionsDimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues.Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand diseaseGene conversions are a common cause of von Willebrand disease.
P2860
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P2860
Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh
2001年學術文章
@zh-hant
name
Expression and characterizatio ...... pes of von Willebrand disease.
@en
Expression and characterizatio ...... pes of von Willebrand disease.
@nl
type
label
Expression and characterizatio ...... pes of von Willebrand disease.
@en
Expression and characterizatio ...... pes of von Willebrand disease.
@nl
prefLabel
Expression and characterizatio ...... pes of von Willebrand disease.
@en
Expression and characterizatio ...... pes of von Willebrand disease.
@nl
P2093
P356
P1433
P1476
Expression and characterizatio ...... pes of von Willebrand disease.
@en
P2093
Brassard J
Mainusch K
Oldenburg J
Ruggeri ZM
Schneppenheim R
Schneppenheim S
P304
P356
10.1182/BLOOD.V97.7.2059
P407
P577
2001-04-01T00:00:00Z