(Q72333216)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789955%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Identification of a candidate missense mutation in a family with von Willebrand disease type IIC (English)

1 reference

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26 October 2019

author name string

R Schneppenheim

1

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26 October 2019

K B Thomas

2

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26 October 2019

S Krey

3

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26 October 2019

U Budde

4

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26 October 2019

U Jessat

5

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26 October 2019

A H Sutor

6

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26 October 2019

B Zieger

7

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26 October 2019

publication date

1 June 1995

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26 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789955%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

volume

95

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26 October 2019

issue

6

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26 October 2019

page(s)

681-686

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https://scigraph.springernature.com/pub.10.1007/bf00209487

26 October 2019

exact match

0 references

cites work

A variant of von Willebrand's disease characterized by recessive inheritance and missing triplet structure of von Willebrand factor multimers

1 reference

12 December 2020

von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee

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12 December 2020

A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

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12 December 2020

von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure

1 reference

12 December 2020

DNA methylation and the frequency of CpG in animal DNA.

1 reference

12 December 2020

AatII polymorphism in von Willebrand factor gene at codon 471.

1 reference

12 December 2020

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

1 reference

12 December 2020

Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease

1 reference

12 December 2020

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

1 reference

12 December 2020

Enzyme-linked immunoabsorbent assay of factor VIII-related antigen. Interest in study of Von Willerbrand's disease (author's transl)

1 reference

12 December 2020

AnMspl polymorphism in the von Willebrand Factor gene

1 reference

12 December 2020

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

12 December 2020

RsaI polymorphism in von Willebrand factor (vWF) at codon 789.

1 reference

12 December 2020

von Willebrand disease type IIC with different abnormalities of von Willebrand factor in the same sibship

1 reference

12 December 2020

Letter: A method for assaying von Willebrand factor (ristocetin cofactor)

1 reference

12 December 2020

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).

1 reference

12 December 2020

Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly

1 reference

12 December 2020

The propeptide of von Willebrand factor independently mediates the assembly of von Willebrand multimers

1 reference

12 December 2020

Abnormality of the N-terminal portion of von Willebrand factor in type IIA and IIC von Willebrand disease

1 reference

12 December 2020

Sequence of protein disulphide isomerase and implications of its relationship to thioredoxin.

1 reference

12 December 2020

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

1 reference

12 December 2020

The complex multimeric composition of factor VIII/von Willebrand factor

1 reference

12 December 2020

Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

1 reference

12 December 2020

Structure of the gene for human von Willebrand factor

1 reference

12 December 2020

New variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami.

1 reference

12 December 2020

Defective co-translational formation of disulphide bonds in protein disulphide-isomerase-deficient microsomes.

1 reference

12 December 2020

Two Populations of Factor VIII-Related Antigen in a Family with von Willebrand's Disease

1 reference

12 December 2020

AccI polymorphism in von Willebrand factor (F8VWF) at codon 516.

1 reference

12 December 2020

A computer program for selection of oligonucleotide primers for polymerase chain reactions

1 reference

12 December 2020

An ELISA test for the binding of von Willebrand antigen to collagen

1 reference

12 December 2020

Investigation of a case of subtype IIC von Willebrand disease: characterization of the variability of this subtype

1 reference

12 December 2020

Tetranucleotide repeat polymorphism in the vWF gene

1 reference

12 December 2020

Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand's disease (type IIC)

1 reference

12 December 2020

Substructure of human von Willebrand factor

1 reference

12 December 2020

Cell biology of von Willebrand factor

1 reference

12 December 2020

Multimeric analysis of von Willebrand factor by molecular sieving electrophoresis in sodium dodecyl sulphate agarose gel.

1 reference

12 December 2020

Expression of variant von Willebrand factor (vWF) cDNA in heterologous cells: requirement of the pro-polypeptide in vWF multimer formation

1 reference

12 December 2020

An HphI-polymorphism in exon 28 of the von Willebrand factor gene, and its frequency among patients with various forms of von Willebrand's disease

1 reference

12 December 2020

In vitro multimerization of von Willebrand factor is triggered by low pH. Importance of the propolypeptide and free sulfhydryls

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00209487

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7789955%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference