(Q35100545)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

title

Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

T Vink

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

E Briët

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

J J Sixma

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

P H Reitsma

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

language of work or name

English

0 references

publication date

1 March 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

25 October 2019

published in

1 reference

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25 October 2019

volume

1 reference

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25 October 2019

issue

1 reference

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25 October 2019

page(s)

2221-2224

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

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

25 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Gene conversion: some implications for immunoglobulin genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Chi hotspots of generalized recombination

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Nucleotide sequence of pre-pro-von Willebrand factor cDNA.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Polymorphism of human Ia antigens: gene conversion between two DR beta loci results in a new HLA-D/DR specificity

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Cutting of chi-like sequences by the RecBCD enzyme of Escherichia coli.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

von Willebrand factor synthesized by endothelial cells from a patient with type IIB von Willebrand disease supports platelet adhesion normally but has an increased affinity for platelets

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Structure of the gene for human von Willebrand factor

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Short gene conversions in the human fetal globin gene region: a by-product of chromosome pairing during meiosis?

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Improvement of PCR amplified DNA sequencing with the aid of detergents

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Functional analysis of a type IIB von Willebrand disease missense mutation: increased binding of large von Willebrand factor multimers to platelets

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Mechanisms for gene conversion and homologous recombination: the double-strand break repair model and the successive half crossing-over model

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Exploring the pathways of homologous recombination

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=43342

Chi, a promoter of generalized recombination in lambda phage, is present in immunoglobulin genes

9 July 2018

1 reference

12 December 2020

von Willebrand factor and von Willebrand disease

1 reference

12 December 2020

Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease

1 reference

12 December 2020

A possible example of gene conversion with a common ?-thalassemia mutation and Chi sequence present in the ?-globin gene

1 reference

12 December 2020

Interchromosomal gene conversion as a possible mechanism for explaining divergence patterns of ZFY-related genes

1 reference

12 December 2020

Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA

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

1 reference

12 December 2020

Recessive inheritance of von Willebrand's disease type I

1 reference

12 December 2020

Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.91.6.2221

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json

25 October 2019

PubMed publication ID

8134377

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8134377%20AND%20SRC:MED&resulttype=core&format=json