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Article

The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.

The Journal of clinical investigation - 1 Apr 1991

Cooney K A, Nichols W C, Bruck M E, Bahou W F, Shapiro A D, Bowie E J, Gralnick H R, Ginsburg D

Abstract excerpt

Type IIB von Willebrand Disease (vWD) is characterized by the selective loss of large von Willebrand Factor (vWF) multimers from plasma, presumably due to their increased reactivity with platelets and subsequent clearance from the circulation. Using the PCR, one of a panel of four potential missense mutations was identified in each of the 14 patients studied from 11 unrelated families. None of these substitutions...

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Identifiers

PMID: 1672694
DOI: 10.1172/JCI115123
PMCID: PMC295141

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.PMID 1672694Read ↗

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