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Article

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

American journal of human genetics - 1 Nov 1997

Hazelwood S, Shotelersuk V, Wildenberg S C, Chen D, Iwata F, Kaiser-Kupfer M I, White J G, King R A, Gahl W A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) consists of ocu-locutaneous albinism, a platelet storage-pool deficiency, and ceroid lipofuscinosis. In a recent report on the cloning of an HPS gene, all 22 Puerto Rican HPS patients were homozygous for a 16-bp duplication in exon 15. This presumably reflected a founder effect for the HPS mutation in Puerto Rico. Nevertheless, we ascertained two individuals from central Puerto...

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Identifiers

PMID: 9345105
DOI: 10.1086/301611
PMCID: PMC1716022

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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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Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.PMID 9345105Read ↗

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A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2.Semantic proximity Read ↗

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