{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T09:03:43Z","timestamp":1753520623069},"reference-count":37,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2001,9,1]],"date-time":"2001-09-01T00:00:00Z","timestamp":999302400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2001,9]]},"DOI":"10.1006\/mgme.2001.3233","type":"journal-article","created":{"date-parts":[[2002,9,18]],"date-time":"2002-09-18T15:46:30Z","timestamp":1032363990000},"page":"217-225","source":"Crossref","is-referenced-by-count":5,"title":["Characterization of the Murine Gene Corresponding to Human Hermansky-Pudlak Syndrome Type 3: Exclusion of the Subtle Gray (sut) Locus"],"prefix":"10.1006","volume":"74","author":[{"given":"Marjan","family":"Huizing","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yair","family":"Anikster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James G.","family":"White","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1006\/mgme.2001.3233_RF1","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1182\/blood.V14.2.162.162","article-title":"Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies","volume":"14","author":"Hermansky","year":"1959","journal-title":"Blood"},{"key":"10.1006\/mgme.2001.3233_RF2","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/mgme.1998.2729","article-title":"Hermansky-Pudlak syndrome: Models for intracellular vesicle formation","volume":"65","author":"Shotelersuk","year":"1998","journal-title":"Mol Genet Metab"},{"key":"10.1006\/mgme.2001.3233_RF3","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1034\/j.1600-0854.2000.011103.x","article-title":"Hermansky-Pudlak syndrome and related disorders of organelle formation","volume":"1","author":"Huizing","year":"2000","journal-title":"Traffic"},{"key":"10.1006\/mgme.2001.3233_RF4","series-title":"The Metabolic Basis of Inherited Disease","first-page":"2905","article-title":"Albinism","author":"Witkop","year":"1989"},{"key":"10.1006\/mgme.2001.3233_RF5","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1056\/NEJM199804303381803","article-title":"Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)","volume":"338","author":"Gahl","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1006\/mgme.2001.3233_RF6","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/0002-9394(82)90701-2","article-title":"Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)","volume":"93","author":"Simon","year":"1982","journal-title":"Am J Ophthalmol"},{"key":"10.1006\/mgme.2001.3233_RF7","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0161-6420(88)33152-0","article-title":"Hermansky-Pudlak Syndrome: Ophthalmic findings","volume":"95","author":"Summers","year":"1988","journal-title":"Ophthalmology"},{"key":"10.1006\/mgme.2001.3233_RF8","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/S0161-6420(99)00150-5","article-title":"Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism","volume":"107","author":"Iwata","year":"2000","journal-title":"Ophthalmology"},{"key":"10.1006\/mgme.2001.3233_RF9","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1001\/archderm.135.7.774","article-title":"Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene","volume":"135","author":"Toro","year":"1999","journal-title":"Arch Dermatol"},{"key":"10.1006\/mgme.2001.3233_RF10","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajh.2830260403","article-title":"Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome","volume":"26","author":"Witkop","year":"1987","journal-title":"Am J Hematol"},{"key":"10.1006\/mgme.2001.3233_RF11","doi-asserted-by":"crossref","first-page":"20","DOI":"10.7326\/0003-4819-92-1-20","article-title":"Hermansky-Pudlak syndrome with granulomatous colitis","volume":"92","author":"Schinella","year":"1980","journal-title":"Ann Intern Med"},{"key":"10.1006\/mgme.2001.3233_RF12","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/S0022-3476(05)82204-8","article-title":"Hermansky-Pudlak syndrome with granulomatous colitis in children","volume":"118","author":"Mahadeo","year":"1991","journal-title":"J Pediatr"},{"key":"10.1006\/mgme.2001.3233_RF13","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/0002-9343(79)91111-2","article-title":"Hermansky-Pudlak Syndrome: Pulmonary manifestations of a ceroid storage disorder","volume":"66","author":"Garay","year":"1979","journal-title":"Am J Med"},{"key":"10.1006\/mgme.2001.3233_RF14","first-page":"617","article-title":"Pathogenesis of pulmonary fibrosis: Platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome","volume":"123","author":"Harmon","year":"1994","journal-title":"J Lab Clin Med"},{"key":"10.1006\/mgme.2001.3233_RF15","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1378\/chest.117.1.129","article-title":"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","volume":"117","author":"Brantly","year":"2000","journal-title":"CHEST"},{"key":"10.1006\/mgme.2001.3233_RF16","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1086\/301611","article-title":"Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome","volume":"61","author":"Hazelwood","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2001.3233_RF17","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1086\/301757","article-title":"Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity","volume":"62","author":"Oh","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1006\/mgme.2001.3233_RF18","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/j.1600-0749.1998.tb00713.x","article-title":"Mouse models of Hemansky Pudlak syndrome: A review","volume":"11","author":"Swank","year":"1998","journal-title":"Pigment Cell Res"},{"key":"10.1006\/mgme.2001.3233_RF19","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng1196-300","article-title":"Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles","volume":"14","author":"Oh","year":"1996","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3233_RF20","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1111\/1523-1747.ep12294634","article-title":"Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene","volume":"108","author":"Bailin","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1006\/mgme.2001.3233_RF21","doi-asserted-by":"crossref","first-page":"9238","DOI":"10.1073\/pnas.94.17.9238","article-title":"The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome","volume":"94","author":"Gardner","year":"1997","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1006\/mgme.2001.3233_RF22","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1093\/hmg\/6.5.793","article-title":"Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron","volume":"6","author":"Feng","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2001.3233_RF23","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1074\/jbc.275.2.1300","article-title":"Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene","volume":"275","author":"Dell'Angelica","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3233_RF24","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1093\/hmg\/9.3.375","article-title":"The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes","volume":"9","author":"Oh","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2001.3233_RF25","first-page":"333","article-title":"Albinism and Hermansky-Pudlak syndrome in Puerto Rico","volume":"82","author":"Witkop","year":"1990","journal-title":"Bol Asoc Med P Rico-Agosto"},{"key":"10.1006\/mgme.2001.3233_RF26","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S1097-2765(00)80170-7","article-title":"Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the \u03b23A subunit of the AP-3 adaptor","volume":"3","author":"Dell'Angelica","year":"1999","journal-title":"Mol Cell"},{"key":"10.1006\/mgme.2001.3233_RF27","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1016\/S0002-9343(99)00436-2","article-title":"A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation","volume":"108","author":"Shotelersuk","year":"2000","journal-title":"Am J Med"},{"key":"10.1006\/mgme.2001.3233_RF28","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1083\/jcb.137.4.835","article-title":"Characterization of the adaptor-related protein complex, AP-3","volume":"137","author":"Simpson","year":"1997","journal-title":"J Cell Biol"},{"key":"10.1006\/mgme.2001.3233_RF29","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1083\/jcb.133.4.749","article-title":"A novel adaptor-related protein complex","volume":"133","author":"Simpson","year":"1996","journal-title":"J Cell Biol"},{"key":"10.1006\/mgme.2001.3233_RF30","doi-asserted-by":"crossref","first-page":"15078","DOI":"10.1074\/jbc.272.24.15078","article-title":"\u03b23A-adaptin, a subunit of the adaptor-like complex AP-3","volume":"272","author":"Dell'Angelica","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3233_RF31","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1093\/emboj\/16.5.917","article-title":"AP-3: An adaptor-like protein complex with ubiquitous expression","volume":"16","author":"Dell'Angelica","year":"1997","journal-title":"EMBO J"},{"key":"10.1006\/mgme.2001.3233_RF32","doi-asserted-by":"crossref","first-page":"29451","DOI":"10.1074\/jbc.273.45.29451","article-title":"The mammalian AP-3 adaptor-like complex mediates the intracellular transport of lysosomal membrane glycoproteins","volume":"273","author":"LeBorgne","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1006\/mgme.2001.3233_RF33","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/hmg\/8.2.323","article-title":"The \u03b23A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness","volume":"8","author":"Feng","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1006\/mgme.2001.3233_RF34","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico","volume":"28","author":"Anikster","year":"2001","journal-title":"Nature Genet"},{"key":"10.1006\/mgme.2001.3233_RF35","first-page":"56","article-title":"Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse","volume":"46","author":"Swank","year":"1996","journal-title":"Lab Anim Sci"},{"key":"10.1006\/mgme.2001.3233_RF36","series-title":"Molecular Cloning: A Laboratory Manual","author":"Sambrook","year":"1989"},{"key":"10.1006\/mgme.2001.3233_RF37","doi-asserted-by":"crossref","first-page":"7933","DOI":"10.1073\/pnas.140212797","article-title":"A mutation in Rab27a causes the vesicle transport defects observed in ashen mice","volume":"97","author":"Wilson","year":"2000","journal-title":"Proc Natl Acad Sci USA"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719201932330?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719201932330?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,16]],"date-time":"2019-12-16T11:45:20Z","timestamp":1576496720000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719201932330"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,9]]},"references-count":37,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2001,9]]}},"alternative-id":["S1096719201932330"],"URL":"https:\/\/doi.org\/10.1006\/mgme.2001.3233","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2001,9]]}}}