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Article

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Nature genetics - 1 Aug 2001

Anikster Y, Huizing M, White J, Shevchenko Y O, Fitzpatrick D L, Touchman J W, Compton J G, Bale S J, Swank R T, Gahl W A, Toro J R

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a storage pool deficiency due to an absence of platelet dense bodies. Lysosomal ceroid lipofuscinosis, pulmonary fibrosis and granulomatous colitis are occasional manifestations of the disease. HPS occurs with a frequency of one in 1800 in north-west Puerto Rico due to a founder effect. Several...

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Source

Identifiers

PMID: 11455388
DOI: 10.1038/ng576

Genes

HPS1
HPS3

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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