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Article

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

Molecular genetics and metabolism - 1 Jun 1998

Shotelersuk V, Hazelwood S, Larson D, Iwata F, Kaiser-Kupfer M I, Kuehl E, Bernardini I, Gahl W A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and ceroid lipofuscinosis. HPS is common in northwest Puerto Rico, where affected individuals are homozygous for a 16-bp duplication in the gene HPS. Two other homozygous frameshift mutations in HPS were previously identified among non-Puerto Rican patients. Eighteen non-Puerto Rican HPS families were studied...

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Identifiers

PMID: 9705234
DOI: 10.1006/mgme.1998.2679

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.PMID 9705234Read ↗

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