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Article

von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention.

Human mutation - 1 Jun 2021

Yadegari Hamideh, Biswas Arijit, Ahmed Shariq, Naz Arshi, Oldenburg Johannes

Abstract excerpt

von Willebrand disease (VWD), the most prevalent congenital bleeding disorder, arises from a deficiency in von Willebrand factor (VWF), which has crucial roles in hemostasis. The present study investigated functional consequences and underlying pathomolecular mechanisms of several VWF propeptide (VWFpp) missense variants detected in our cohort of VWD patients for the first time. Transient expression experiments...

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Identifiers

PMID: 33942438
DOI: 10.1002/humu.24204

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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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