{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T03:09:55Z","timestamp":1792120195125,"version":"4.4.0"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4706,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Type I (tyrosinase\u2010deficient) oculocutaneous albinism (OCA) results from mutations of the gene encoding tyrosinase, the enzyme that catalyzes the first 2 steps of melanin pigment biosynthesis. In type IA (tyrosinase\u2010negative) OCA tyrosinase enzymatic activity is completely absent, and in type IB (\u201cyellow\u201d) OCA tyrosinase activity is greatly reduced. Here, we describe 11 novel mutations of the tyrosinase gene in Caucasian patients with these 2 forms of type I OCA. Type I OCA in Caucasians appears to result from a great variety of different uncommon alleles. More than 80% of the known missense substitutions associated with type I OCA cluster within 2 relatively small regions of the tyrosinase polypeptide, suggesting that these may correspond to functionally important sites within the enzyme. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430523","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:49:25Z","timestamp":1118537365000},"page":"865-871","source":"Crossref","is-referenced-by-count":71,"title":["Tyrosinase gene mutations in type I (tyrosinase\u2010deficient) oculocutaneous albinism define two clusters of missense substitutions"],"prefix":"10.1002","volume":"43","author":[{"given":"Ram K.","family":"Tripathi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen M.","family":"Strunk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lutz B.","family":"Giebel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard G.","family":"Weleber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Spritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.1002\/j.1460-2075.1990.tb07470.x","article-title":"Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice","volume":"9","author":"Beerman F","year":"1990","journal-title":"EMBO J"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.12.5272"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(01)78482-6"},{"key":"e_1_2_1_5_1","volume-title":"The Attic Nights of Aulus Gellius","author":"Gellius A","year":"1952"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.10.3103-a"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.9.3255"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.464"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90409-8"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115075"},{"key":"e_1_2_1_11_1","first-page":"1159","article-title":"Tyrosinase gene mutations associated with type IB (\u201cyellow\u201d) oculocutaneous albinism","volume":"48","author":"Giebel LB","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.1989.tb00166.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.18.7010"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00276337"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8635(18)30668-5"},{"key":"e_1_2_1_16_1","first-page":"19","article-title":"Non\u2010random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase\u2010related) oculocutaneous albinism","volume":"8","author":"King RA","year":"1991","journal-title":"Mol Biol Med"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-372180-8.50039-1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)91588-X"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.21.7473"},{"key":"e_1_2_1_20_1","first-page":"85","article-title":"Protein and active\u2010site structure of tyrosinase","volume":"256","author":"Lerch K","year":"1988","journal-title":"Adv Pigment Cell Res, Prog Clin Biol Res"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1950.30.1.91"},{"key":"e_1_2_1_22_1","first-page":"729","article-title":"The involvement of histidine at the active site of Harding\u2010Passey mouse melanoma tyrosinase","volume":"11","author":"Martinez JH","year":"1985","journal-title":"Biochem Int"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12477808"},{"key":"e_1_2_1_24_1","first-page":"199","article-title":"Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism","volume":"49","author":"Oetting WS","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_25_1","volume-title":"The Natural History of Pliny","author":"Plinius Secundus the Elder","year":"1942"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.239.4839.487"},{"key":"e_1_2_1_27_1","volume-title":"Molecular Cloning. A Laboratory Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1990.tb15510.x"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.20.9890"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006143222407"},{"key":"e_1_2_1_32_1","first-page":"318","article-title":"Homozygous tyrosinase gene mutation in an American Black with tyrosinase\u2010negative (type IA) oculocutaneous albinism","volume":"48","author":"Spritz RA","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_33_1","first-page":"17792","article-title":"Molecular basis of tyrosinase\u2010negative oculocutaneous albinism","volume":"265","author":"Takeda A","year":"1990","journal-title":"J Biol Chem"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)91767-1"},{"key":"e_1_2_1_35_1","first-page":"103","article-title":"A polymorphism of the human tyrosinase gene is associated with temperature\u2010sensitive enzymatic activity","volume":"1","author":"Tripathi RK","year":"1991","journal-title":"Gene Expression"},{"key":"e_1_2_1_36_1","first-page":"2905","volume-title":"The Metabolic Basis of Inherited Disease","author":"Witkop CJ","year":"1989"},{"key":"e_1_2_1_37_1","first-page":"125","article-title":"Isolation of human tyrosinase from cultured melanoma cells","volume":"69","author":"Wittbjer A","year":"1989","journal-title":"Acta Derm Venereol (Stockholm)"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.24.7293"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430523","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T16:07:45Z","timestamp":1698077265000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,7,15]]},"references-count":37,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1992,7,15]]}},"alternative-id":["10.1002\/ajmg.1320430523"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430523","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,7,15]]}}}