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Article

BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.

Journal of genetics and genomics = Yi chuan xue bao - 20 Dec 2016

Ma Jing, Zhang Zhe, Yang Lin, Kriston-Vizi Janos, Cutler Daniel F, Li Wei

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which has been linked to platelet granule defects. Both platelet granules and endothelial Weibel-Palade bodies (WPBs) are members of lysosome-related organelles (LROs) whose formation is regulated by HPS protein associated complexes such as BLOC (biogenesis of lysosome-related organelles complex) -1, -2, -3, AP-3 (adaptor protein...

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Share to Deamino Arginine Vasopressin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27889498
DOI: 10.1016/j.jgg.2016.09.007
PMCID: PMC5199771

Genes

VWF
HPS6
HPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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