(Q45867440)

English

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development

scientific article published on 18 April 2007

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scholarly article

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

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Coagulation factor VIII

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2

object named as

Slaoui M

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

author name string

Repessé Y

1

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Ferrandiz D

3

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Europe PubMed Central

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17 December 2017

http://europepmc.org/abstract/MED/17445092

Gautier P

4

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Costa C

5

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Costa JM

6

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Lavergne JM

7

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Borel-Derlon A

8

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17 December 2017

http://europepmc.org/abstract/MED/17445092

publication date

18 April 2007

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Journal of Thrombosis and Haemostasis

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Europe PubMed Central

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17 December 2017

http://europepmc.org/abstract/MED/17445092

5

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Europe PubMed Central

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17 December 2017

http://europepmc.org/abstract/MED/17445092

7

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

1469-1476

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Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

Hemophilia A--from basic science to clinical practice

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Haemophilias A and B.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Characterization of the human factor VIII gene.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.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.1538-7836.2007.02591.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.1538-7836.2007.02591.X

21 January 2018

Molecular mechanisms of mild and moderate hemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Thirteen novel mutations in the factor VIII gene in the Nijmegen haemophilia A patient population

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.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.1538-7836.2007.02591.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.1538-7836.2007.02591.X

21 January 2018

DNA microarray analysis for the detection of mutations in hemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.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.1538-7836.2007.02591.X

21 January 2018

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Some factor VIII exon 14 frameshift mutations cause moderately severe haemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Metal ion-independent association of factor VIII subunits and the roles of calcium and copper ions for cofactor activity and inter-subunit affinity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Mutating factor VIII: lessons from structure to function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Contribution of factor VIIIa A2 and A3-C1-C2 subunits to the affinity for factor IXa in factor Xase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Residues 110-126 in the A1 domain of factor VIII contain a Ca2+ binding site required for cofactor activity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Factor VIII inhibitors in mild and moderate-severity haemophilia A.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2007.02591.X

21 January 2018

Identifiers

10.1111/J.1538-7836.2007.02591.X

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

release_3lkshevva5fillhradubynuk4i

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https://api.fatcat.wiki/v0/release/3lkshevva5fillhradubynuk4i

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 December 2017

http://europepmc.org/abstract/MED/17445092

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