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Article

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.

Molecular genetics and metabolism - 1 Feb 2008

Nazarian Ramin, Huizing Marjan, Helip-Wooley Amanda, Starcevic Marta, Gahl William A, Dell'Angelica Esteban C

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) comprises a constellation of human autosomal recessive disorders characterized by albinism and platelet storage pool deficiency. At least eight types of HPS have been defined based on the identity of the mutated gene. These genes encode components of four ubiquitously expressed protein complexes, named Adaptor Protein (AP)-3 and Biogenesis of Lysosome-related Organelles Complex...

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Identifiers

PMID: 17933573
DOI: 10.1016/j.ymgme.2007.09.001
PMCID: PMC2242292

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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