{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:53:36Z","timestamp":1790967216046,"version":"4.1.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[1996,5,1]],"date-time":"1996-05-01T00:00:00Z","timestamp":830908800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,12,30]],"date-time":"2015-12-30T00:00:00Z","timestamp":1451433600000},"content-version":"vor","delay-in-days":7182,"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":[[1996,5]]},"DOI":"10.1111\/1523-1747.ep12340185","type":"journal-article","created":{"date-parts":[[2004,7,13]],"date-time":"2004-07-13T09:30:31Z","timestamp":1089711031000},"page":"1137-1140","source":"Crossref","is-referenced-by-count":19,"title":["Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene"],"prefix":"10.1016","volume":"106","author":[{"given":"Rhonda E.","family":"Schnur","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice T.","family":"Sellinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart A.","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penelope A.","family":"Wick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne O.","family":"Tatsumura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Spritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1111\/1523-1747.ep12340185_bb0010","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0888-7543(88)90153-X","article-title":"Human tyrosinase gene, mapped to chromosome 11(q14\u2192q21), defines second region of homology with mouse chromosome 7","volume":"3","author":"Barton","year":"1988","journal-title":"Genomics"},{"key":"10.1111\/1523-1747.ep12340185_bb0015","first-page":"586","article-title":"Mutation; 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":"10.1111\/1523-1747.ep12340185_bb0020","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1093\/nar\/18.10.3103-a","article-title":"RFLP for Mbol in the human tyrosinase gene","volume":"18","author":"Giebel","year":"1990","journal-title":"Nucleis Acids Res"},{"key":"10.1111\/1523-1747.ep12340185_bb0025","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1016\/0888-7543(91)90409-8","article-title":"Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment","volume":"9","author":"Giebel","year":"1991","journal-title":"Genemics"},{"key":"10.1111\/1523-1747.ep12340185_bb0030","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/0092-8674(79)90001-1","article-title":"Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse","volume":"16","author":"Gluecksohn-Waelsch","year":"1979","journal-title":"Cell"},{"key":"10.1111\/1523-1747.ep12340185_bb0035","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1139\/g94-026","article-title":"Three spontaneous mutations at the albino locus of SELH\/Be mice","volume":"37","author":"Juriloff","year":"1994","journal-title":"Genome"},{"key":"10.1111\/1523-1747.ep12340185_bb0040","first-page":"707","article-title":"Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization","volume":"49","author":"Kuwano","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1111\/1523-1747.ep12340185_bb0045","doi-asserted-by":"crossref","first-page":"7473","DOI":"10.1073\/pnas.84.21.7473","article-title":"Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus","volume":"84","author":"Kwon","year":"1987","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1111\/1523-1747.ep12340185_bb0050","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1126\/science.2294592","article-title":"High resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones","volume":"247","author":"Lichter","year":"1990","journal-title":"Scince"},{"key":"10.1111\/1523-1747.ep12340185_bb0055","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1242\/dev.105.1.175","article-title":"The albino deletion complex defines genes necessary for development of embryonic and extraembryonic ectoderm","volume":"105","author":"Niswander","year":"1989","journal-title":"Development"},{"key":"10.1111\/1523-1747.ep12340185_bb0060","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1111\/1523-1747.ep12376924","article-title":"Structural organization of the human tyrosinase gene and sequence analysis and characterization of its promoter region","volume":"102","author":"Ponnazhagan","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1111\/1523-1747.ep12340185_bb0065","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/0027-5107(93)90184-H","article-title":"Molecular analysis of viable spontaneous and radiation-induced albino (c)-locus mutations in the mouse","volume":"286","author":"Rinchik","year":"1993","journal-title":"Mutat Res"},{"key":"10.1111\/1523-1747.ep12340185_bb0070","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1093\/genetics\/100.3.427","article-title":"Analysis of the albino-locus region of the mouse: IV. Characterization of 34 deficiencies","volume":"100","author":"Russell","year":"1982","journal-title":"Genetics"},{"key":"10.1111\/1523-1747.ep12340185_bb0075","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1093\/hmg\/3.suppl_1.1469","article-title":"Molecular genetics of oculocutancous albinism","volume":"3","author":"Spritz","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1111\/1523-1747.ep12340185_bb0080","first-page":"1","article-title":"Genetic disorders of pigmentation","volume":"22","author":"Spritz","year":"1994","journal-title":"Adv Hum Genet"},{"key":"10.1111\/1523-1747.ep12340185_bb0085","first-page":"1058","article-title":"Mutations of the KIT (mast\/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism","volume":"51","author":"Spritz","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1111\/1523-1747.ep12340185_bb0090","doi-asserted-by":"crossref","first-page":"9890","DOI":"10.1093\/nar\/16.20.9890","article-title":"RFLP for TaqI at the human tyrosinase locus","volume":"16","author":"Spritz","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1111\/1523-1747.ep12340185_bb0095","first-page":"1173","article-title":"Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient oculocutaneous albinism (OCA)","volume":"53","author":"Tripathi","year":"1993","journal-title":"Am J Ham Cruel"},{"key":"10.1111\/1523-1747.ep12340185_bb0100","first-page":"103","article-title":"A polymorphism of the human tyrosinase gene is associated with temperature sensitive enzymatic activity","volume":"1","author":"Tripathi","year":"1991","journal-title":"Genet Exp"}],"container-title":["Journal of Investigative Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15425710?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022202X15425710?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T05:16:02Z","timestamp":1624511762000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022202X15425710"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,5]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1996,5]]}},"alternative-id":["S0022202X15425710"],"URL":"https:\/\/doi.org\/10.1111\/1523-1747.ep12340185","relation":{},"ISSN":["0022-202X"],"issn-type":[{"value":"0022-202X","type":"print"}],"subject":[],"published":{"date-parts":[[1996,5]]}}}