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Article

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Traffic (Copenhagen, Denmark) - 1 Nov 2000

Huizing M, Anikster Y, Gahl W A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical findings of oculocutaneous albinism, a platelet storage pool deficiency, and some degree of ceroid lipofuscinosis. Related diseases share some of these findings and may exhibit other symptoms and signs but the underlying defect in the entire group of disorders involves defective intracellular...

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Identifiers

PMID: 11208073
DOI: 10.1034/j.1600-0854.2000.011103.x

Genes

HPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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