Multiple gene interaction and modulation of hemostatic balance (Q37613680)

21 August 2017

1 reference

title

Multiple gene interaction and modulation of hemostatic balance (English)

1 reference

21 August 2017

1

Massimo Franchini

1 reference

PubMed ID

19824800

21 August 2017

Pier Mannuccio Mannucci

series ordinal

2

object named as

Pier Mannuccio Mannucci

1 reference

PubMed ID

19824800

21 August 2017

language of work or name

1 reference

1 January 2009

1 reference

Clinical Chemistry and Laboratory Medicine

21 August 2017

1 reference

21 August 2017

47

1 reference

21 August 2017

12

1 reference

21 August 2017

1455-1460

1 reference

The hemostatic balance revisited through the lessons of mankind evolution

21 August 2017

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Does the genotype predict the phenotype? Evaluations of the hemostatic proteome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Interpatient phenotypic inconsistency in severe congenital hemophilia: a systematic review of the role of inherited thrombophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

The phenotypic heterogeneity of severe hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Phenotypic heterogeneity in severe hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Effects of the factor V G1691A mutation and the factor II G20210A variant on the clinical expression of severe hemophilia A in children--results of a multicenter studys

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Association of severe haemophilia A and factor V Leiden: report of three cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Validation of a composite score for clinical severity of hemophilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Recent developments in the understanding of the combined deficiency of FV and FVIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Vitamin K-dependent coagulation factors deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Association of pharmacokinetic (CYP2C9) and pharmacodynamic (factors II, VII, IX, and X; proteins S and C; and gamma-glutamyl carboxylase) gene variants with warfarin sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Multicentre evaluation of combined prothrombotic defects associated with thrombophilia in childhood. Childhood Thrombophilia Study Group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

The factor V Glu1608Lys mutation is recurrent in familial thrombophilia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Two novel factor V null mutations associated with activated protein C resistance phenotype/genotype discrepancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

Antithrombotic therapy for venous thromboembolic disease: the Seventh ACCP Conference on Antithrombotic and Thrombolytic Therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FCCLM.2009.331

21 January 2018

Identifiers

DOI

10.1515/CCLM.2009.331

1 reference

21 August 2017

1 reference

PubMed ID

19824800