The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.
about
Functional architecture of Weibel-Palade bodies.von Willebrand Disease.Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storagevon Willebrand factor propeptide: biology and clinical utilityInsights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.The molecular genetics of von Willebrand diseaseUpdate on von Willebrand factor multimers: focus on high-molecular-weight multimers and their role in hemostasis.von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.Angiodysplasia in von Willebrand Disease: Understanding the Clinical and Basic Science.Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient.Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.
P2860
Q34160799-E922A077-4917-47AB-ACE0-0CF6FB7A280BQ34546675-11D409B9-DF17-4841-A2AF-E21C54A25F4AQ35995241-E0E5E58D-F946-465F-AD3A-363C9F016318Q36143225-784784BC-22B0-4534-9CE8-AA378CEDEB51Q37060689-331E6DDC-5E24-40A3-B6A5-209A4FE8F148Q37193881-3499F316-F83A-4625-8954-BB073577A1CAQ37671400-04B388B8-12F2-4C60-A0BA-EC7D7E46DE9AQ37903943-9412765F-C37E-47D0-9220-3E33FA170A1DQ38614473-E608B0BF-3837-409E-8C30-768F33051405Q39286115-E518CF99-481F-4C0A-A2B3-3CD477795D5FQ39655365-3B9E5814-AF23-49C8-B68B-02CC96899EF8Q43903934-B8089334-A073-4A50-809B-DB9DAFC548F6Q50965737-BBAF6FC9-29B4-440F-A0CB-7FF79001E8D5Q51566372-86139EE8-CDF6-4DF6-8DE7-EBB261760334
P2860
The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The mutation N528S in the von ...... merization and storage of VWF.
@ast
The mutation N528S in the von ...... merization and storage of VWF.
@en
type
label
The mutation N528S in the von ...... merization and storage of VWF.
@ast
The mutation N528S in the von ...... merization and storage of VWF.
@en
prefLabel
The mutation N528S in the von ...... merization and storage of VWF.
@ast
The mutation N528S in the von ...... merization and storage of VWF.
@en
P2093
P2860
P1433
P1476
The mutation N528S in the von ...... merization and storage of VWF.
@en
P2093
Cornelia Wermes
Sandra L Haberichter
Sonja Schneppenheim
Tobias Obser
P2860
P304
P356
10.1182/BLOOD-2009-09-244327
P407
P577
2010-03-24T00:00:00Z