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Article

Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.

Clinical genetics - 1 Jul 2005

Griffin A E, Cobb B R, Anderson P D, Claassen D A, Helip-Wooley A, Huizing M, Gahl W A

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding diathesis and, in some patients, pulmonary fibrosis or granulomatous colitis. HPS is associated with biosynthesis defects of melanosomes, platelet-dense bodies, and lysosomes. There are seven genetic HPS subtypes; HPS-1 is the most common. We used a real-time quantitative PCR (qPCR) approach to...

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Source

Identifiers

PMID: 15952982
DOI: 10.1111/j.1399-0004.2005.00461.x

Genes

HPS1

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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