(Q45886376)

English

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

0 references

Coagulation factor VIII

0 references

0 references

0 references

author name string

Jayandharan G

1

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Shaji RV

2

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Baidya S

3

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Nair SC

4

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Chandy M

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Srivastava A

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

publication date

1 September 2005

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

11

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

481-491

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

Characterization of the human factor VIII gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Molecular mechanisms of mild and moderate hemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Evaluation of DHPLC in the analysis of hemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Structure of the C2 domain of human factor VIII at 1.5 A resolution

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Analysis of 18 novel mutations in the factor VIII gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Expression of active human factor VIII from recombinant DNA clones

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Factor VIII - novel insights into form and function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2516.2005.01121.X

21 January 2018

Identifiers

10.1111/J.1365-2516.2005.01121.X

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/16128892

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=Q45886376&oldid=2088641603"