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Article

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

Current molecular medicine - 1 Aug 2002

Huizing M, Gahl W A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) has evolved into a group of genetically distinct disorders characterized by oculocutaneous albinism, a storage pool deficiency, and impaired formation or trafficking of intracellular vesicles. HPS-1 results from mutations in the HPS1 gene and affects approximately 400 individuals in northwest Puerto Rico due to a 16-bp duplication in exon 15. Another 13 mutations have been reported...

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Source

Identifiers

PMID: 12125811
DOI: 10.2174/1566524023362357

Genes

HPS3
HPS1

Provenance

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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