(Q37501127)

English

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.

scientific article published on May 1991

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673793%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673793%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

2

1 reference

Europe PubMed Central

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23 September 2019

author name string

W C Nichols

1

1 reference

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23 September 2019

J S Harrison

3

1 reference

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23 September 2019

R L Cody

4

1 reference

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23 September 2019

D Ginsburg

5

1 reference

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23 September 2019

language of work or name

0 references

publication date

1 May 1991

1 reference

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23 September 2019

number of pages

5

1 reference

based on heuristic

inferred from page(s)

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

1 reference

Europe PubMed Central

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23 September 2019

88

1 reference

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23 September 2019

9

1 reference

Europe PubMed Central

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23 September 2019

3857-3861

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673793%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

The effect of ABO blood group on the diagnosis of von Willebrand disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Genetic linkage of two intragenic restriction fragment length polymorphisms with von Willebrand's disease type IIA. Evidence for a defect in the von Willebrand factor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Cloning and characterization of two cDNAs coding for human von Willebrand factor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Structure of the gene for human von Willebrand factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Detection of heterozygotes in both parents of homozygous patients with Von Willebrand's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

23 August 2017

Functional inactivation of genes by dominant negative mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

28 September 2017

Detection of Heterozygotes for Recessive von Willebrand's Disease by the Assay of Antihemophilic-Factor-like Antigen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

A relatively high frequency of severe (type III) von Willebrand's disease in Israel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

Inheritance and prevalence of von Willebrand's disease severe form in a Brazilian population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

An infrequent DNA polymorphism associated with severe von Willebrand's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=51552

26 June 2018

Carrier detection in severe (type III) von Willebrand disease using two intragenic restriction fragment length polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

von Willebrand disease investigated by two novel RFLPs

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiological investigation of the prevalence of von Willebrand's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

von Willebrand factor and von Willebrand disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular and cellular biology of von Willebrand factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid neonatal diagnosis of von Willebrand's disease by use of the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of polymerase chain reaction-detected sequence polymorphisms to document engraftment following allogeneic bone marrow transplantation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A "G" to "A" mutation at position -1 of a 5' splice site in a late infantile form of Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of severe von Willebrand's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1673793

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.88.9.3857

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673793%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1991PNAS...88.3857N

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673793%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1673793%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

ResearchGate publication ID

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