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Article

Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.

Haematologica - 1 Mar 2004

Corral Javier, González-Conejero Rocio, Pujol-Moix Nuria, Domenech Pere, Vicente Vicente

Abstract excerpt

BACKGROUND AND OBJECTIVES: Isolated platelet dense granule (PDG) deficiency is a heterogeneous disorder frequently found among patients with mild to moderate bleeding diatheses. However, the molecular basis of this disorder is unknown. Genes involved in other rare bleeding disorders with associated reduction in the numbers of platelet dense-granules may play a role in isolated PDG deficiency. Among such genes,...

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Source

Identifiers

PMID: 15020272

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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Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency.PMID 15020272Read ↗

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