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Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood 14<\/b>: 162-169, 1959."},{"key":"2","unstructured":"2) Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet 113<\/b>: 10-17, 2003."},{"key":"3","doi-asserted-by":"crossref","unstructured":"3) 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<\/b>: 376-380, 2001.","DOI":"10.1038\/ng576"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4) Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 69<\/b>: 1022-1032, 2001.","DOI":"10.1086\/324168"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5) 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<\/b>: 300-306, 1996.","DOI":"10.1038\/ng1196-300"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6) Oh J, Ho L, Ala-Mello S, et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet 62<\/b>: 593-598, 1998.","DOI":"10.1086\/301757"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7) Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizuig M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 117<\/b>: 129-136, 2000.","DOI":"10.1378\/chest.117.1.129"},{"key":"8","unstructured":"8) Witkop CJ, Nunez Babcock M, Rao GH, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R 82<\/b>: 333-339, 1990."},{"key":"9","doi-asserted-by":"crossref","unstructured":"9) Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. Hermansky-Pudlak syndrome in a Swiss population. Dermatology 187<\/b>: 248-256, 1993.","DOI":"10.1159\/000247258"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10) Bailin T, Oh J, Feng GH, Jukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol 108<\/b>: 923-927, 1997.","DOI":"10.1111\/1523-1747.ep12294634"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11) Horikawa T, Araki K, Fukai K, et al. Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. Br J Dermatol 143<\/b>: 635-640, 2000.","DOI":"10.1111\/j.1365-2133.2000.03725.x"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12) Mitsui H, Komine M, Watanabe T, Kikuchi K, Okoci H, Tamaki K. Does Hermansky-Pudlak syndrome predispose to systemic lupus erythematosus? Br J Dermatol 146<\/b>: 908-911, 2002.","DOI":"10.1046\/j.1365-2133.2002.04670.x"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13) Suzuki T, Ito S, Inagaki K, et al. Investigation on the IVS5 +5G→A splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. J Dermatol Sci 36<\/b>: 106-108, 2004.","DOI":"10.1016\/j.jdermsci.2004.08.008"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14) Huizing M, Scher CD, Strovel E, et al. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 51<\/b>: 150-158, 2002.","DOI":"10.1203\/00006450-200202000-00006"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15) Shotelersuk V, Dell’Angelica EC, Hartnell L, Bonifacino JS, Gahl WA. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 108<\/b>: 423-427, 2000.","DOI":"10.1016\/S0002-9343(99)00436-2"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16) Bachli EB, Brack T, Eppler E, et al. Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. Am J Med Genet 127A<\/b>: 201-207, 2004.","DOI":"10.1002\/ajmg.a.20683"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17) Huizing M, Anikster Y, Fitzpatrick DL, et al. Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 69<\/b>: 1022-1032, 2001.","DOI":"10.1086\/324168"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18) Huizing M, Hess R, Dorward H. et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 5<\/b>: 711-722, 2004.","DOI":"10.1111\/j.1600-0854.2004.00208.x"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19) 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<\/b>: 145-153, 2003.","DOI":"10.1038\/ng1087"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20) Yoshioka Y, Kumasaka T, Ishidoh K, et al. Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice. Pathol Int 54<\/b>: 322-331, 2004.","DOI":"10.1111\/j.1440-1827.2004.01626.x"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21) 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<\/b>: 304-313, 2000.","DOI":"10.1007\/s004280000241"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22) Dell’Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS. Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem 275<\/b>: 1300-1306, 2000.","DOI":"10.1074\/jbc.275.2.1300"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23) Sugita M, Cao X, Watts GF, Rogers RA, Bonifacino JS, Brenner MB. Failure of trafficking and antigen presentation by CD1 in AP-3-deficient cells. Immunity 16<\/b>: 697-706, 2002.","DOI":"10.1016\/S1074-7613(02)00311-4"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24) Martina JA, Moriyama K, Bonifacino JS. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 278<\/b>: 29376-29384, 2003.","DOI":"10.1074\/jbc.M301294200"},{"key":"25","unstructured":"25) Harmon KR, Witkop CJ, White JG, et al. Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med 123<\/b>: 617-627, 1994."}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/44\/7\/44_7_733\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T23:28:46Z","timestamp":1552433326000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/44\/7\/44_7_733\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":25,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2005]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.44.733","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005]]}}}