{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:53:31Z","timestamp":1790967211024,"version":"4.1.0"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2001,7,16]],"date-time":"2001-07-16T00:00:00Z","timestamp":995241600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2001,8]]},"DOI":"10.1038\/ng576","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T08:32:48Z","timestamp":1027672368000},"page":"376-380","source":"Crossref","is-referenced-by-count":206,"title":["Mutation of a new gene causes a unique form of Hermansky\u2013Pudlak syndrome in a genetic isolate of central Puerto Rico"],"prefix":"10.1038","volume":"28","author":[{"given":"Yair","family":"Anikster","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuriy O.","family":"Shevchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana L.","family":"Fitzpatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W.","family":"Touchman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G.","family":"Compton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherri J.","family":"Bale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard T.","family":"Swank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge R.","family":"Toro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2001,7,16]]},"reference":[{"key":"BFng576_CR1","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1182\/blood.V14.2.162.162","volume":"14","author":"F Hermansky","year":"1959","unstructured":"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\u2013169 (1959).","journal-title":"Blood"},{"key":"BFng576_CR2","first-page":"5587","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"RA King","year":"2001","unstructured":"King, R.A., Hearing, V.J., Creel, D.J. & Oetting, W.S. in The Metabolic and Molecular Bases of Inherited Disease 8th edn., Vol. IV (eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.L.) 5587\u20135627 (McGraw-Hill, New York, 2001)."},{"key":"BFng576_CR3","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1034\/j.1600-0854.2000.011103.x","volume":"1","author":"M Huizing","year":"2000","unstructured":"Huizing, M., Anikster, Y. & Gahl, W.A. Hermansky\u2013Pudlak syndrome and related disorders of organelle formation. Traffic 1, 823\u2013835 (2000).","journal-title":"Traffic"},{"key":"BFng576_CR4","doi-asserted-by":"publisher","first-page":"1258","DOI":"10.1056\/NEJM199804303381803","volume":"338","author":"WA Gahl","year":"1998","unstructured":"Gahl, W.A. et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky\u2013Pudlak syndrome). N. Engl. J. Med. 338, 1258\u20131264 (1998).","journal-title":"N. Engl. J. Med."},{"key":"BFng576_CR5","first-page":"333","volume":"82","author":"CJ Witkop","year":"1990","unstructured":"Witkop, C.J. et al. Albinism and Hermansky\u2013Pudlak syndrome in Puerto Rico. Bol. Asoc. Med. P. R.. 82, 333\u2013339 (1990).","journal-title":"Bol. Asoc. Med. P. R.."},{"key":"BFng576_CR6","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1038\/ng1196-300","volume":"14","author":"J Oh","year":"1996","unstructured":"Oh, J. et al. Positional cloning of a gene for Hermansky\u2013Pudlak syndrome, a disorder of cytoplasmic organelles. Nature Genet. 14, 300\u2013306 (1996).","journal-title":"Nature Genet."},{"key":"BFng576_CR7","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1006\/mgme.1998.2729","volume":"65","author":"V Shotelersuk","year":"1998","unstructured":"Shotelersuk, V. & Gahl, W.A. Hermansky\u2013Pudlak syndrome: models for intracellular vesicle formation. Mol. Genet. Metab. 65, 85\u201396 (1998).","journal-title":"Mol. Genet. Metab."},{"key":"BFng576_CR8","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1086\/301757","volume":"62","author":"J Oh","year":"1998","unstructured":"Oh, J. et al. Mutation analysis of patients with Hermansky\u2013Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am. J. Hum. Genet. 62, 593\u2013598 (1998).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng576_CR9","doi-asserted-by":"publisher","first-page":"1300","DOI":"10.1074\/jbc.275.2.1300","volume":"275","author":"E Dell'Angelica","year":"2000","unstructured":"Dell'Angelica, E. et al. Molecular characterization of the protein encoded by the Hermansky\u2013Pudlak syndrome type 1 gene. J. Biol. Chem. 275, 1300\u20131306 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFng576_CR10","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1093\/hmg\/8.2.323","volume":"8","author":"L Feng","year":"1999","unstructured":"Feng, L. et al. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky\u2013Pudlak syndrome and night blindness. Hum. Mol. Genet. 8, 323\u2013330 (1999).","journal-title":"Hum. Mol. Genet."},{"key":"BFng576_CR11","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/S1097-2765(00)80170-7","volume":"3","author":"EC Dell'Angelica","year":"1999","unstructured":"Dell'Angelica, E.C., Shotelersuk, V., Aguilar, R.C., Gahl, W.A. & Bonifacino, J.S. Altered trafficking of lysosomal proteins in Hermansky\u2013Pudlak syndrome due to mutations in the beta3A subunit of the AP-3 adaptor. Mol. Cell. 3, 11\u201321 (1999).","journal-title":"Mol. Cell."},{"key":"BFng576_CR12","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/S0002-9343(99)00436-2","volume":"108","author":"V Shotelersuk","year":"2000","unstructured":"Shotelersuk, V., Dell'Angelica, E.C., Hartnell, L., Bonifacino, J.S. & Gahl, W.A. A new variant of Hermansky\u2013Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am. J. Med. 108, 423\u2013427 (2000).","journal-title":"Am. J. Med."},{"key":"BFng576_CR13","doi-asserted-by":"publisher","first-page":"15078","DOI":"10.1074\/jbc.272.24.15078","volume":"272","author":"EC Dell'Angelica","year":"1997","unstructured":"Dell'Angelica, E.C., Ooi, C.E. & Bonifacino, J.S. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. J. Biol. Chem. 272, 15078\u201315084 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFng576_CR14","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1086\/301611","volume":"61","author":"S Hazelwood","year":"1997","unstructured":"Hazelwood, S. et al. Evidence for locus heterogeneity in Puerto Ricans with Hermansky\u2013Pudlak syndrome. Am. J. Hum. Genet. 61, 1088\u20131094 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng576_CR15","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1002\/ajh.2830260403","volume":"26","author":"CJ Witkop","year":"1987","unstructured":"Witkop, C.J., Krumwiede, M., Sedano, H. & White, J.G. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky\u2013Pudlak syndrome. Am. J. Hematol. 26, 305\u2013311 (1987).","journal-title":"Am. J. Hematol."},{"key":"BFng576_CR16","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1111\/j.1600-0749.1998.tb00713.x","volume":"11","author":"RT Swank","year":"1998","unstructured":"Swank, R.T., Novak, E.K., McGarry, M.P., Rusiniak, M.E. & Feng, L. Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res. 11, 60\u201380 (1998).","journal-title":"Pigment Cell Res."},{"key":"BFng576_CR17","first-page":"56","volume":"46","author":"RT Swank","year":"1996","unstructured":"Swank, R.T., Reddington, M. & Novak, E.K. Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. Lab. Anim. Sci. 46, 56\u201360 (1996).","journal-title":"Lab. Anim. Sci."},{"key":"BFng576_CR18","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1016\/S0955-0674(97)80021-X","volume":"9","author":"SC Emr","year":"1997","unstructured":"Emr, S.C. & Malhota, V.V. Membranes and sorting. Curr. Opin. Cell Biol. 9, 475\u2013476 (1997).","journal-title":"Curr. Opin. Cell Biol."},{"key":"BFng576_CR19","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1126\/science.280.5362.431","volume":"280","author":"EC Dell'Angelica","year":"1998","unstructured":"Dell'Angelica, E.C., Klumperman, J., Stoorvogel, W. & Bonifacino, J.S. Association of the AP-3 adaptor complex with clathrin. Science 280, 431\u2013434 (1998).","journal-title":"Science"},{"key":"BFng576_CR20","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1093\/emboj\/17.5.1304","volume":"17","author":"S H\u00f6ning","year":"1998","unstructured":"H\u00f6ning, S., Sandoval, I.V. & von Figura, K. A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosine mediates selective binding of AP-3. EMBO J. 17, 1304\u20131314 (1998).","journal-title":"EMBO J."},{"key":"BFng576_CR21","doi-asserted-by":"publisher","first-page":"29009","DOI":"10.1074\/jbc.271.46.29009","volume":"271","author":"H Ohno","year":"1996","unstructured":"Ohno, H., Fournier, M.C., Poy, G. & Bonifacino, J.S. Structural determinants of interaction of tyrosine-based sorting signals with the adaptor medium chains. J. Biol. Chem. 271, 29009\u201329015 (1996).","journal-title":"J. Biol. Chem."},{"key":"BFng576_CR22","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1146\/annurev.cellbio.12.1.27","volume":"12","author":"RD Teasdale","year":"1996","unstructured":"Teasdale, R.D. & Jackson, M.R. Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus. Annu. Rev. Cell. Dev. Biol. 12, 27\u201354 (1996).","journal-title":"Annu. Rev. Cell. Dev. Biol."},{"key":"BFng576_CR23","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/S0968-0004(96)80181-2","volume":"21","author":"JA McNew","year":"1996","unstructured":"McNew, J.A. & Goodman, J.M. The targeting and assembly of peroxisomal proteins: some old rules do not apply. Trends Biochem. Sci. 21, 54\u201358 (1996).","journal-title":"Trends Biochem. Sci."},{"key":"BFng576_CR24","first-page":"774","volume":"135","author":"J Toro","year":"1999","unstructured":"Toro, J., Turner, M. & Gahl, W.A. Dermatologic manifestations of Hermansky\u2013Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch. Dermatol. 135, 774\u2013780 (1999).","journal-title":"Arch. Dermatol."},{"key":"BFng576_CR25","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1016\/S0161-6420(99)00150-5","volume":"107","author":"F Iwata","year":"2000","unstructured":"Iwata, F. et al. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky\u2013Pudlak syndrome, a form of albinism. Ophthalmology 107, 783\u2013789 (2000).","journal-title":"Ophthalmology"},{"key":"BFng576_CR26","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1093\/genetics\/28.6.491","volume":"28","author":"SE Luria","year":"1943","unstructured":"Luria, S.E. & Delbruck, M. Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28, 491\u2013511 (1943).","journal-title":"Genetics"},{"key":"BFng576_CR27","volume-title":"Aibonito notas para su historia","author":"J Santiago-Gonzalez","year":"1985","unstructured":"Santiago-Gonzalez, J. & Cardona-Bonet, W.A. Aibonito notas para su historia (Oficina estatal de preservacion historica, San Juan, Puerto Rico, 1985)."},{"key":"BFng576_CR28","first-page":"359","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"SE Antonarakis","year":"2001","unstructured":"Antonarakis, S.E., Krawczak, M. & Cooper, D.N. in The Metabolic and Molecular Bases of Inherited Disease 8th edn, Vol. I (eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.L.) 359 (McGraw-Hill, New York, 2001)."},{"key":"BFng576_CR29","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1006\/mgme.1999.2864","volume":"67","author":"PL Deininger","year":"1999","unstructured":"Deininger, P.L. & Batzer, M.A. Alu repeats and human disease. Mol. Genet. Metab. 67, 183\u2013193 (1999).","journal-title":"Mol. Genet. Metab."},{"key":"BFng576_CR30","volume-title":"Molecular Cloning: A Laboratory Manual","author":"J Sambrook","year":"1989","unstructured":"Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual, 2nd edn (Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, 1989)."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng576.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng576","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng576.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T22:15:10Z","timestamp":1684448110000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng576"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,7,16]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2001,8]]}},"alternative-id":["BFng576"],"URL":"https:\/\/doi.org\/10.1038\/ng576","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,7,16]]}}}