{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T08:56:11Z","timestamp":1760345771839,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T00:00:00Z","timestamp":1104537600000},"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":[[2005]]},"abstract":"<jats:p>&lt;i&gt;P&lt;\/i&gt;-gene-related oculocutaneous albinism (OCA2) is an autosomal recessive disorder. The phenotype is typically somewhat less severe than that of the tyrosinase-negative type (OCA1A). One of the mutations in the &lt;i&gt;P&lt;\/i&gt; gene, A481T, is associated with a mild phenotype, occasionally with no distinctive skin manifestations, which is called subclinical OCA. We present a Japanese patient having the A481T mutant allele in the &lt;i&gt;P&lt;\/i&gt; gene with subclinical oculocutaneous albinism diagnosed on getting severely sunburned. The A481T mutant allele is relatively common in the Caucasian population as well as in Japan, indicating that a number of subclinical patients of OCA2 might exist not only in Japan, but also all over the world.<\/jats:p>","DOI":"10.1159\/000084758","type":"journal-article","created":{"date-parts":[[2005,5,27]],"date-time":"2005-05-27T10:28:02Z","timestamp":1117189682000},"page":"322-323","source":"Crossref","is-referenced-by-count":4,"title":["A Patient with Subclinical Oculocutaneous Albinism Type 2 Diagnosed on Getting Severely Sunburned"],"prefix":"10.1159","volume":"210","author":[{"given":"Masahiro","family":"Kawai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiko","family":"Inagaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriyuki","family":"Suzuki","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":[[2005,5,30]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1038%2F361072a0"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1016%2FS0923-1811%2803%2900071-9"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1016%2F0888-7543%2895%2980220-G"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1046%2Fj.1523-1747.2003.12127.x"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1056%2FNEJM199402243300803"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1016%2FS0923-1811%2803%2900005-7"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1086%2F382195"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1006%2Fexcr.1997.3901"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1111%2F1523-1747.ep12285621"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1002%2Fajmg.a.20044"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.1159%2F000073092"},{"doi-asserted-by":"publisher","key":"ref12","DOI":"10.1159%2F000065848"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/84758","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/84758","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:45:42Z","timestamp":1745466342000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000084758"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005]]},"references-count":12,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2005,5,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000084758","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"type":"print","value":"1018-8665"},{"type":"electronic","value":"1421-9832"}],"subject":[],"published":{"date-parts":[[2005]]}}}