(Q45881141)

English

Identification of two point mutations in the von Willebrand factor gene of three families with the ‘Normandy’variant of von Willebrand disease

scientific article published on August 1, 1991

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scholarly article

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

Identification of two point mutations in the von Willebrand factor gene of three families with the ‘Normandy’variant of von Willebrand disease (English)

reason for preferred rank

most precise value

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832934

5 December 2022

author name string

C. Gaucher

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832934

5 December 2022

B. Mercier

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832934

5 December 2022

S. Jorieux

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832934

5 December 2022

D. Oufkir

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832934

5 December 2022

C. Mazurier

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1832934

5 December 2022

language of work or name

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publication date

1 August 1991

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2141.1991.tb04480.x

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1991.tb04480.x/fullpdf

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

British Journal of Haematology

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

78

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

4

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

506-514

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04480.X

21 January 2018

AnMspl polymorphism in the von Willebrand Factor gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04480.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04480.X

21 January 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04480.X

21 January 2018

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.1991.TB04480.X

21 January 2018

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

1

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

2

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Covalent attachment of proteins to polysaccharide carriers by means of benzoquinone

4

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Limited proteolysis of human von Willebrand factor by Staphylococcus aureus V-8 protease: isolation and partial characterization of a platelet-binding domain

9

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Identification of disulfide-bridged substructures within human von Willebrand factor

14

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Evidence for a von Willebrand factor defect in factor VIII binding in three members of a family previously misdiagnosed mild haemophilia A and haemophilia A carriers: consequences for therapy and genetic counselling

18

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Thrombosis et diathesis haemorrhagica

24

27

502

author name string

Owen W.G.

publication date

1977

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Localization within the 106 N-terminal amino acids of von Willebrand factor (vWF) of the epitope corresponding to a monoclonal antibody which inhibits vWF binding to factor VIII

26

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

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

29

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Stabilization of factor VIII in plasma by the von Willebrand factor. Studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease

33

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE).

34

1 reference

10.1111/J.1365-2141.1991.TB04480.X

https://api.crossref.org/works/10.1111/J.1365-2141.1991.TB04480.X

5 December 2022

Identifiers

10.1111/J.1365-2141.1991.TB04480.X

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

release_kqydzeq6ujbt5gfkv54atsmk2a

1 reference

https://api.fatcat.wiki/v0/release/kqydzeq6ujbt5gfkv54atsmk2a

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

17 December 2017

http://europepmc.org/abstract/MED/1832934

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