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Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.

Blood - 15 Mar 1994

Hilbert L, Gaucher C, de Romeuf C, Horellou M H, Vink T, Mazurier C

Abstract excerpt

Type IIB von Willebrand disease is characterized by the selective loss of high molecular weight von Willebrand factor (vWF) multimers from plasma and enhanced platelet agglutination of platelet-rich-plasma in the presence of low concentrations of ristocetin. We identified, in two related patients, a C-->G transversion resulting in the substitution of Valine for Leucine at position 697 of the mature subunit of...

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PMID: 8123843

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Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.PMID 8123843Read ↗

Recombinant von Willebrand factor Arg578-->Gln. A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not to collagen or heparin.Semantic proximity Read ↗

Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.Semantic proximity Read ↗

Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.Semantic proximity Read ↗

Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.Semantic proximity Read ↗

Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.Semantic proximity Read ↗

Discrepancy between IIA phenotype and IIB genotype in a patient with a variant of von Willebrand disease.Semantic proximity Read ↗

Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu.Semantic proximity Read ↗

A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease.Semantic proximity Read ↗

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A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype.Semantic proximity Read ↗

Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets.Semantic proximity Read ↗

Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.Semantic proximity Read ↗

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