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Article

snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5.

Genetics - 1 Oct 2013

Daly Christina M S, Willer Jason, Gregg Ronald, Gross Jeffrey M

Abstract excerpt

Hermansky-Pudlak Syndrome (HPS) is a set of genetically heterogeneous diseases caused by mutations in one of nine known HPS genes. HPS patients display oculocutaneous hypopigmentation and bleeding diathesis and, depending on the disease subtype, pulmonary fibrosis, congenital nystagmus, reduced visual acuity, and platelet aggregation deficiency. Mouse models for all known HPS subtypes have contributed greatly to...

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Identifiers

PMID: 23893484
DOI: 10.1534/genetics.113.154898
PMCID: PMC3781975

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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