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Article

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.

Pigment cell & melanoma research - 1 Mar 2018

Okamura Ken, Abe Yuko, Araki Yuta, Wakamatsu Kazumasa, Seishima Mariko, Umetsu Takafumi, Kato Atsushi, Kawaguchi Masakazu, Hayashi Masahiro, Hozumi Yutaka, Suzuki Tamio

Abstract excerpt

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency, and ceroid deposition. Most of the causative genes for HPS encode subunits of the biogenesis of lysosome-related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole-exome sequencing. Next, we analyzed hair samples from the...

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Source

Identifiers

PMID: 29054114
DOI: 10.1111/pcmr.12662

Genes

HPS1
HPS4
HPS6

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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Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.PMID 29054114Read ↗

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