(Q37596425)

English

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis

scientific article published on October 1991

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

21 August 2017

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis (English)

1 reference

Europe PubMed Central

21 August 2017

electrophoresis

0 references

0 references

0 references

0 references

author name string

M Higuchi

1

1 reference

Europe PubMed Central

21 August 2017

S E Antonarakis

2

1 reference

Europe PubMed Central

21 August 2017

L Kasch

3

1 reference

Europe PubMed Central

21 August 2017

J Oldenburg

4

1 reference

Europe PubMed Central

21 August 2017

E Economou-Petersen

5

1 reference

Europe PubMed Central

21 August 2017

K Olek

6

1 reference

Europe PubMed Central

21 August 2017

M Arai

7

1 reference

Europe PubMed Central

21 August 2017

H Inaba

8

1 reference

Europe PubMed Central

21 August 2017

H H Kazazian

9

1 reference

Europe PubMed Central

21 August 2017

language of work or name

0 references

publication date

1 October 1991

1 reference

Europe PubMed Central

21 August 2017

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

1 reference

Europe PubMed Central

21 August 2017

88

1 reference

Europe PubMed Central

21 August 2017

8307-8311

1 reference

Europe PubMed Central

21 August 2017

19

1 reference

Europe PubMed Central

21 August 2017

Molecular cloning of a cDNA encoding human antihaemophilic factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Detection and localization of single base changes by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Proteolytic requirements for thrombin activation of anti-hemophilic factor (factor VIII)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

A large region (approximately equal to 95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Molecular basis of factor VIII inhibition by human antibodies. Antibodies that bind to the factor VIII light chain prevent the interaction of factor VIII with phospholipid

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Localization of human factor FVIII inhibitor epitopes to two polypeptide fragments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Haemophilia B: database of point mutations and short additions and deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Synthetic factor VIII peptides with amino acid sequences contained within the C2 domain of factor VIII inhibit factor VIII binding to phosphatidylserine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

23 August 2017

The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

6 September 2017

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

6 September 2017

The molecular basis of hemophilia A in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

14 September 2017

Membrane-bound enzyme complexes in blood coagulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

14 September 2017

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

14 September 2017

Characterization of the human factor VIII gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Construction and characterization of an active factor VIII variant lacking the central one-third of the molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

25 June 2018

Mutations of factor VIII cleavage sites in hemophilia A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

1 September 2018

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=52497

1 September 2018

Detection of single base substitutions in total genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1924291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1924291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1924291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reconstitution of human factor VIII from isolated subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/1924291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.88.19.8307

1 reference

Europe PubMed Central

21 August 2017

1991PNAS...88.8307H

0 references

1 reference

Europe PubMed Central

21 August 2017

1 reference

Europe PubMed Central

21 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37596425&oldid=2015064203"