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Most of the causative genes for HPS encode subunits of the biogenesis of lysosome\u2010related organelles complex (BLOC). In this study, we identified one patient each with HPS4, HPS6, and HPS9 by whole\u2010exome sequencing. Next, we analyzed hair samples from the three patients and representative patients with HPS1 and controls using electron microscopy and chemical methods. All HPS patients had fewer, smaller, and more immature melanosomes than healthy controls. Further, all patients showed reduced total melanin content and increased levels of benzothiazine\u2010type pheomelanin. The results of this study demonstrate the impact of the dysfunctions of BLOCs on the maturation of melanosomes and melanin levels and composition through analysis of their hair samples.<\/jats:p>","DOI":"10.1111\/pcmr.12662","type":"journal-article","created":{"date-parts":[[2017,10,20]],"date-time":"2017-10-20T23:16:35Z","timestamp":1508541395000},"page":"267-276","source":"Crossref","is-referenced-by-count":35,"title":["Characterization of melanosomes and melanin in Japanese patients with Hermansky\u2013Pudlak syndrome types 1, 4, 6, and 9"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7366-3233","authenticated-orcid":false,"given":"Ken","family":"Okamura","sequence":"first","affiliation":[{"name":"Department of Dermatology Faculty of Medicine Yamagata University  Yamagata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Abe","sequence":"additional","affiliation":[{"name":"Department of Dermatology Faculty 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