Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.
about
von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studiesThe molecular characterization of von Willebrand disease: good in partsThe molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domainMolecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.The molecular biology of von Willebrand disease.A monoclonal antibody to von Willebrand factor (vWF) inhibits factor VIII binding. Localization of its antigenic determinant to a nonadecapeptide at the amino terminus of the mature vWF polypeptide.Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand diseaseNonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.Alloantibodies in von Willebrand disease.Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis.The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.Translational medicine advances in von Willebrand disease.von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.Molecular biology of von Willebrand factor.von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein.Current management of patients with severe von Willebrand disease type 3: a 2012 update.An update on type 2B von Willebrand disease.von Willebrand factor: biological function and molecular defects.Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence.An infrequent DNA polymorphism associated with severe von Willebrand's disease.Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.The inheritance and molecular genetics of von Willebrand's disease.von Willebrand disease family studies: comparison of three methods of analysis of the von Willebrand factor gene polymorphism related to a variable number tandem repeat sequence in intron 40.A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3
P2860
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P2860
Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.
description
1988 nî lūn-bûn
@nan
1988 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Homozygous and heterozygous de ...... severe von Willebrand disease.
@ast
Homozygous and heterozygous de ...... severe von Willebrand disease.
@en
Homozygous and heterozygous de ...... severe von Willebrand disease.
@nl
type
label
Homozygous and heterozygous de ...... severe von Willebrand disease.
@ast
Homozygous and heterozygous de ...... severe von Willebrand disease.
@en
Homozygous and heterozygous de ...... severe von Willebrand disease.
@nl
prefLabel
Homozygous and heterozygous de ...... severe von Willebrand disease.
@ast
Homozygous and heterozygous de ...... severe von Willebrand disease.
@en
Homozygous and heterozygous de ...... severe von Willebrand disease.
@nl
P2093
P2860
P356
P1476
Homozygous and heterozygous de ...... severe von Willebrand disease.
@en
P2093
J A Koziol
J Gitschier
N Ciavarella
T S Zimmerman
Z M Ruggeri
P2860
P304
P356
10.1073/PNAS.85.8.2753
P407
P577
1988-04-01T00:00:00Z