Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1288L
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VWF

NM_000552.5:p.L1288L

Associated Papers

Keep it positive: loss of positive charge induced by R1205H von Willebrand factor change accelerates von Willebrand factor clearance through enhanced binding to macrophage clearance receptors LRP1 and SR-A1.

Castaman G

Journal of Thrombosis and Haemostasis : Jth, 2024

Successful multi-modal immune tolerance induction for factor IX deficiency with inhibitors and allergic reactions.

Kuhn J et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

Budde U et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA).

Nichols WL et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

Clinical use of Haemate P in inherited von Willebrand's disease: a cohort study on 100 Italian patients.

Federici AB et al.

Haematologica, 2007

Type 1 von Willebrand disease.

Peake I et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

Inherited and de novo von Willebrand disease 'Vicenza' in UK families with the R1205H mutation: diagnostic pitfalls and new insights.

Lester WA et al.

British Journal of Haematology, 2006

Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.

Casaña P et al.

Haematologica, 2006

Von Willebrand's disease: clinical management.

Federici AB et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006

Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Identifying type Vicenza von Willebrand disease.

Casonato A et al.

The Journal of Laboratory and Clinical Medicine, 2006

An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees.

Kunicki TJ et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

von Willebrand factor: two sides of a coin.

Sadler JE

Journal of Thrombosis and Haemostasis : Jth, 2005

Clinical diagnosis of von Willebrand disease.

Federici AB

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004

A sensitive ristocetin co-factor activity assay with recombinant glycoprotein Ibalpha for the diagnosis of patients with low von Willebrand factor levels.

Federici AB et al.

Haematologica, 2004

Fainting induces an acute increase in the concentration of plasma factor VIII and von Willebrand factor.

Casonato A et al.

Haematologica, 2003

Guidelines for the diagnosis and management of von Willebrand disease in Italy.

Federici AB et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2002

Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.

Casonato A et al.

Blood, 2002

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

Bodó I et al.

Blood, 2001

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.

Casaña P et al.

Haematologica, 2001

Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families.

Schneppenheim R et al.

Thrombosis and Haemostasis, 2000

[Blood coagulation disorder in a patient with moderate factor XIII and IX deficiency].

Torsellini A et al.

Haematologica, 1972

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."