{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:45:07Z","timestamp":1781106307369,"version":"3.54.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"9","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1990,5]]},"abstract":"<jats:p>We have identified a tyrosinase gene mutation in several patients with classic, tyrosinase-negative (type IA) oculocutaneous albinism. This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. This mutation thus appears to be a frequent cause of tyrosinase-negative oculocutaneous albinism.<\/jats:p>","DOI":"10.1073\/pnas.87.9.3255","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T07:38:21Z","timestamp":1149061101000},"page":"3255-3258","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":57,"title":["A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism."],"prefix":"10.1073","volume":"87","author":[{"given":"L B","family":"Giebel","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Wisconsin, Madison 53706."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K M","family":"Strunk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Wisconsin, Madison 53706."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"King","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Wisconsin, Madison 53706."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J M","family":"Hanifin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Wisconsin, Madison 53706."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R A","family":"Spritz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Wisconsin, Madison 53706."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1990,5]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.87.9.3255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:05:02Z","timestamp":1649855102000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.87.9.3255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,5]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1990,5]]}},"alternative-id":["10.1073\/pnas.87.9.3255"],"URL":"https:\/\/doi.org\/10.1073\/pnas.87.9.3255","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,5]]},"assertion":[{"value":"1990-05-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}