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Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14: 162-169, 1959."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14: 300-306, 1996.","DOI":"10.1038\/ng1196-300"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the &beta;3A subunit of the AP-3 adaptor. Mol Cell 3: 11-21, 1999.","DOI":"10.1016\/S1097-2765(00)80170-7"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Anikster Y, Huizing M, White J, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 28: 376-380, 2001.","DOI":"10.1038\/ng576"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Suzuki T, Li W, Zhang Q, et al. Hermansky-Pudlak syndrome is caused by mutations in <i>HPS4<\/i>, the human homolog of the mouse light-ear gene. Nat Genet 30: 321-324, 2002.","DOI":"10.1038\/ng835"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 35: 84-89, 2003.","DOI":"10.1038\/ng1229"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Zhang Q, Zhao B, Li W, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33: 145-153, 2003.","DOI":"10.1038\/ng1087"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Morgan NV, Pasha S, Johnson CA, et al. A germline mutation in <i>BLOC1S3\/reduced pigmentation<\/i> causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet 78: 160-166, 2006.","DOI":"10.1086\/499338"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Cullinane AR, Curry JA, Carmona-Rivera C, et al. A BLOC-1 mutation screen reveals that <i>PLDN<\/i> is mutated in Hermansky-Pudlak Syndrome type 9. Am J Hum Genet 88: 778-787, 2011.","DOI":"10.1016\/j.ajhg.2011.05.009"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Pierson DM, Ionescu D, Qing G, et al. Pulmonary fibrosis in Hermansky-Pudlak syndrome. a case report and review. Respiration 73: 382-395, 2006.","DOI":"10.1159\/000091609"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Gochuico BR, Huizing M, Golas GA, et al. Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med 18: 56-64, 2012.","DOI":"10.2119\/molmed.2011.00198"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci 51: 1-9, 2008.","DOI":"10.1016\/j.jdermsci.2007.12.008"},{"key":"13","unstructured":"13. Nakatani Y, Nakamura N, Sano J, et al. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling\/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows Arch 437: 304-313, 2000."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Kobashi Y, Yoshida K, Miyashita N, Niki Y, Matsushima T. Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. Intern Med 44: 616-621, 2005.","DOI":"10.2169\/internalmedicine.44.616"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol Genet Metab 76: 234-242, 2002.","DOI":"10.1016\/S1096-7192(02)00044-6"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab 103: 128-134, 2011.","DOI":"10.1016\/j.ymgme.2011.02.003"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Lederer DJ, Kawut SM, Sonett JR, et al. Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome. J Heart Lung Transplant 24: 1697-1699, 2005.","DOI":"10.1016\/j.healun.2004.11.015"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Rouhani FN, Brantly ML, Markello TC, et al. Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. 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