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Article

Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Aug 1992

Piétu G, Ribba A S, de Paillette L, Chérel G, Lavergne J M, Bahnak B R, Meyer D

Abstract excerpt

The defective von Willebrand Factor (vWF) in type IIA von Willebrand disease (vWD) has decreased binding affinity for platelet membrane glycoprotein Ib (GPIb) while in type IIB vWD, the abnormal vWF has increased affinity for this receptor. Segments of exon 28 of the vWF gene were amplified by the polymerase chain reaction and sequenced in two patients with type IIA and two patients with type IIB vWD. One type...

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PMID: 1420817

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.PMID 1420817Read ↗

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Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.Semantic proximity Read ↗

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Molecular genetics of von Willebrand disease.Semantic proximity Read ↗

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

Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.Semantic proximity Read ↗

Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families.Semantic proximity Read ↗

Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.Semantic proximity Read ↗

The molecular biology of von Willebrand disease.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 ↗

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 ↗

Von Willebrand disease - phenotype versus genotype: deficiency versus disease.Semantic proximity Read ↗

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