Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations.

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Article

Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations.

The Journal of biological chemistry - 5 Mar 1992

Lyons S E, Bruck M E, Bowie E J, Ginsburg D

Abstract excerpt

Type IIA von Willebrand disease (vWD) results from abnormalities in von Willebrand factor (vWF) characterized by absence of plasma high molecular weight (HMW) vWF multimers. In this report, 5 distinct point mutations were identified in 6 Type IIA vWD families. A total of 7 mutations, all clustered within a 124-amino acid segment of the vWF A2 domain, now account for 9 of a panel of 11 Type IIA families. In COS-7...

Topics

Amino Acids
Base Sequence
Biological Transport
Blood Platelets
Cell Line
Electrophoresis, Gel, Pulsed-Field
Endoplasmic Reticulum
Enzyme-Linked Immunosorbent Assay
Golgi Apparatus
Hexosaminidases
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Precipitin Tests

Transfection

von Willebrand Diseases

Source

Open in PubMed

Identifiers

PMID: 1537829

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1537829-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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