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Article

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.

The Journal of investigative dermatology - 1 Jan 2006

Santiago Borrero Pedro J, Rodríguez-Pérez Yolanda, Renta Jessicca Y, Izquierdo Natalio J, Del Fierro Laura, Muñoz Daniel, Molina Norma López, Ramírez Sonia, Pagán-Mercado Glorivee, Ortíz Idith, Rivera-Caragol Enid, Spritz Richard A, Cadilla Carmen L

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) (MIM #203300) is a heterogeneous group of autosomal recessive disorders characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal dysfunction. HPS is very common in Puerto Rico (PR), particularly in the northwest part of the island, with a frequency of approximately 1:1,800. Two HPS genes and mutations have been identified in PR, a 16-base pair (bp)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16417222
DOI: 10.1038/sj.jid.5700034
PMCID: PMC3560388

Genes

HPS1
HPS3
OCA2
TYR

Variants

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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