{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T21:32:30Z","timestamp":1771882350385,"version":"3.50.1"},"reference-count":4,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[1999]]},"abstract":"<jats:p>&lt;b&gt;Background:&lt;\/b&gt; Yellow oculocutaneous albinism (OCA) that is caused by tyrosinase gene mutations shows two characteristics: extreme hypopigmentation at birth and the eventual development of yellow or blond hair. &lt;b&gt;Objective:&lt;\/b&gt; We studied a Japanese girl who had brown hair, a lighter skin color than her unaffected family and brown eyes at 9 months of age. &lt;b&gt;Methods:&lt;\/b&gt; We performed direct sequencing analyses of the tyrosinase gene in her genomic DNA. &lt;b&gt;Results:&lt;\/b&gt; The patient was a compound heterozygote for the +\u0394C310 mutation (known to result in absent melanogenic activity) and a second t\u2192a transition at the 3\u2032 end of intron 2. &lt;b&gt;Conclusion:&lt;\/b&gt; The t\u2192a transition has previously been reported as a splicing mutation in other Caucasian patients with a typical yellow OCA phenotype. However, this patient showed much more pigmentation than that reported in Caucasians. Therefore, we estimate that the mild phenotype results from her genetic pigment background.<\/jats:p>","DOI":"10.1159\/000018218","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:25:18Z","timestamp":1050427518000},"page":"124-129","source":"Crossref","is-referenced-by-count":21,"title":["A Splicing Mutation of the Tyrosinase Gene Causes Yellow Oculocutaneous Albinism in a Japanese Patient with a Pigmented Phenotype"],"prefix":"10.1159","volume":"199","author":[{"given":"Jun","family":"Matsunaga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miwako","family":"Dakeishi-Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muneo","family":"Tanita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margit","family":"Nindl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoichi","family":"Nagata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eriko","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinori","family":"Miyamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanako","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masutaka","family":"Furue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[1999,10,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000017897"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:2<171::AID-HUMU11>3.3.CO;2-9"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genet.28.1.1"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/342243a0"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/18218","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/18218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:56:29Z","timestamp":1745470589000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000018218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999]]},"references-count":4,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1999,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000018218","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999]]}}}