{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:01:14Z","timestamp":1791302474564,"version":"4.1.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,2]],"date-time":"2015-12-02T00:00:00Z","timestamp":1449014400000},"content-version":"vor","delay-in-days":3622,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Investigative Dermatology"],"published-print":{"date-parts":[[2006,1]]},"DOI":"10.1038\/sj.jid.5700034","type":"journal-article","created":{"date-parts":[[2005,12,13]],"date-time":"2005-12-13T18:44:38Z","timestamp":1134499478000},"page":"85-90","source":"Crossref","is-referenced-by-count":56,"title":["Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky\u2013Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico"],"prefix":"10.1016","volume":"126","author":[{"given":"Pedro J.","family":"Santiago Borrero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda","family":"Rodr\u00edguez-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessicca Y.","family":"Renta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalio J.","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"del Fierro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Mu\u00f1oz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norma L\u00f3pez","family":"Molina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Ram\u00edrez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glorivee","family":"Pag\u00e1n-Mercado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Idith","family":"Ort\u00edz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enid","family":"Rivera-Caragol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Spritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen L.","family":"Cadilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/sj.jid.5700034_bb0010","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a new gene causes a unique form of Hermansky\u2013Pudlak syndrome in a genetic isolate of central Puerto Rico","volume":"28","author":"Anikster","year":"2001","journal-title":"Nat Genet"},{"key":"10.1038\/sj.jid.5700034_bb0015","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1111\/1523-1747.ep12294634","article-title":"Organization and nucleotide sequence of the human Hermansky\u2013Pudlak Syndrome (HPS) gene","volume":"108","author":"Bailin","year":"1997","journal-title":"J Invest Dermatol"},{"key":"10.1038\/sj.jid.5700034_bb0020","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1196\/annals.1315.018","article-title":"Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky\u2013Pudlak syndrome","volume":"1038","author":"Bonifacino","year":"2004","journal-title":"Ann NY Acad Sci"},{"key":"10.1038\/sj.jid.5700034_bb0025","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/0003-2697(79)90131-3","article-title":"Improved microfluorometric DNA determination in biological material using 33258 Hoechst","volume":"100","author":"Cesarone","year":"1979","journal-title":"Anal Biochem"},{"key":"10.1038\/sj.jid.5700034_bb0030","series-title":"Current Protocols in Human Genetics","author":"Dracopoli","year":"1998"},{"key":"10.1038\/sj.jid.5700034_bb0035","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#","article-title":"Estimation of the carrier frequency of a 2.7kb deletion allele of the P gene associated with OCA2 in African Americans","volume":"7","author":"Durham-Pierre","year":"1996","journal-title":"Hum Mutat"},{"key":"10.1038\/sj.jid.5700034_bb0040","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1093\/hmg\/4.9.1665","article-title":"Linkage disequilibrium mapping of the gene for Hermansky\u2013Pudlak syndrome to chromosome 10q23.1\u2013q23.3","volume":"4","author":"Fukai","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1038\/sj.jid.5700034_bb0045","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/S1096-7192(02)00044-6","article-title":"Effect of pirfenidone on the pulmonary fibrosis of Hermansky\u2013Pudlak syndrome","volume":"76","author":"Gahl","year":"2002","journal-title":"Mol Genet Metab"},{"key":"10.1038\/sj.jid.5700034_bb0050","first-page":"586","article-title":"Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel","volume":"54","author":"Gershoni-Baruch","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0055","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":"10.1038\/sj.jid.5700034_bb0060","first-page":"147","article-title":"Possible origins of the gene of Hermansky\u2013Pudlak in Puerto Rico","volume":"12","author":"Izquierdo","year":"1993","journal-title":"P R Health Sci J"},{"key":"10.1038\/sj.jid.5700034_bb0065","first-page":"191","article-title":"Ocular findings in the Hermansky\u2013Pudlak syndrome","volume":"93","author":"Izquierdo","year":"1995","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1038\/sj.jid.5700034_bb0070","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/0888-7543(95)80220-G","article-title":"Organization and sequence of the human P gene and identification of a new family of transport proteins","volume":"26","author":"Lee","year":"1995","journal-title":"Genomics"},{"key":"10.1038\/sj.jid.5700034_bb0075","first-page":"2047","article-title":"Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)","volume":"3","author":"Lee","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1038\/sj.jid.5700034_bb0080","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/S1016-8478(23)17382-1","article-title":"A non-radioactive method for simultaneous detection of single strand conformation polymorphisms (SSCPs) and heteroduplexes","volume":"5","author":"Lee","year":"1995","journal-title":"Mol Cells"},{"key":"10.1038\/sj.jid.5700034_bb0085","first-page":"342","article-title":"Genetic epidemiology of structural mutations of the \u03b2-globin gene","volume":"27","author":"Nagel","year":"1990","journal-title":"Semin Hematol"},{"key":"10.1038\/sj.jid.5700034_bb0090","first-page":"199","article-title":"Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism","volume":"49","author":"Oetting","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0095","first-page":"17","article-title":"A frequent tyrosinase gene mutation associated with type-1A tyrosinase-negative. Oculocutaneous albinism in Puerto Rico","volume":"52","author":"Oetting","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0100","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1038\/ng1196-300","article-title":"Positional cloning of a gene for Hermansky\u2013Pudlak syndrome, a disorder of cytoplasmic organelles","volume":"14","author":"Oh","year":"1996","journal-title":"Nat Genet"},{"key":"10.1038\/sj.jid.5700034_bb0105","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1080\/09537109876960","article-title":"Molecular genetics of the Hermansky\u2013Pudlak and Chediak\u2013Higashi syndromes","volume":"9","author":"Spritz","year":"1998","journal-title":"Platelets"},{"key":"10.1038\/sj.jid.5700034_bb0110","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/S0959-437X(03)00059-5","article-title":"Human and mouse disorders of pigmentation","volume":"13","author":"Spritz","year":"2003","journal-title":"Curr Opin Genet Dev"},{"key":"10.1038\/sj.jid.5700034_bb0115","first-page":"1320","article-title":"Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)","volume":"56","author":"Spritz","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0120","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s004390050400","article-title":"Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation","volume":"99","author":"Stevens","year":"1997","journal-title":"Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0125","first-page":"586","article-title":"An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism (OCA2) in southern African Negroids","volume":"56","author":"Stevens","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0130","first-page":"755","article-title":"A gene causing Hermansky\u2013Pudlak Syndrome in a Puerto Rican population maps to chromosome 10q2","volume":"57","author":"Wildenberg","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1038\/sj.jid.5700034_bb0135","doi-asserted-by":"crossref","first-page":"245","DOI":"10.3109\/13816819009020986","article-title":"Hermansky\u2013Pudlak syndrome (HPS). An epidemiologic study","volume":"11","author":"Witkop","year":"1990","journal-title":"Ophthalm Paediatr Genet"},{"key":"10.1038\/sj.jid.5700034_bb0140","first-page":"333","article-title":"Albinism and Hermansky\u2013Pudlak syndrome in Puerto Rico","volume":"82","author":"Witkop","year":"1990","journal-title":"Bol Assoc Med P Rico"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15326257?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15326257?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,2,1]],"date-time":"2024-02-01T18:34:17Z","timestamp":1706812457000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15326257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":27,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["S0022202X15326257"],"URL":"https:\/\/doi.org\/10.1038\/sj.jid.5700034","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}