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Article

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.

Traffic (Copenhagen, Denmark) - 1 Sept 2004

Huizing Marjan, Hess Richard, Dorward Heidi, Claassen David A, Helip-Wooley Amanda, Kleta Robert, Kaiser-Kupfer Muriel I, White James G, Gahl William A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelles such as melanosomes and platelet dense granules. Seven genes are now associated with HPS in humans. An accurate diagnosis of each HPS subtype has important prognostic and treatment implications. Here we describe the cellular, molecular, and clinical aspects of the recently identified HPS-5 subtype. We first analyzed the genomic...

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Source

Identifiers

PMID: 15296495
DOI: 10.1111/j.1600-0854.2004.00208.x

Genes

HPS5

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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