{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T21:24:00Z","timestamp":1772832240761,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,7,24]],"date-time":"2006-07-24T00:00:00Z","timestamp":1153699200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Research"],"published-print":{"date-parts":[[2006,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary disorder caused by mutations in the Membrane\u2010Associated Transporter Protein gene (<jats:italic>SLC45A2<\/jats:italic>). The SLC45A2 protein is a 530\u2010amino\u2010acid polypeptide that contains 12 putative transmembrane domains, and appears to be a transporter that mediates melanin synthesis. Eighteen pathological mutations have been reported so far. In this study, six novel mutations, p.Y49C (c.146A\u2003&gt;\u2003G), p.G89R (c.265G\u2003&gt;\u2003A), p.C229Y (c.686G\u2003&gt;\u2003A), p.T437A (c.1309A\u2003&gt;\u2003G), p.T440A (c.1318A\u2003&gt;\u2003G) and p.G473D (c.1418G\u2003&gt;\u2003A) were found in eight Japanese patients with various clinical phenotypes. The phenotypes of OCA4 were as various as the other types of OCA and probably depended on the mutation sites in the <jats:italic>SLC45A2<\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/j.1600-0749.2006.00332.x","type":"journal-article","created":{"date-parts":[[2006,7,24]],"date-time":"2006-07-24T09:08:46Z","timestamp":1153732126000},"page":"451-453","source":"Crossref","is-referenced-by-count":36,"title":["Oculocutaneous albinism type 4: six novel mutations in the membrane\u2010associated transporter protein gene and their phenotypes"],"prefix":"10.1111","volume":"19","author":[{"given":"Katsuhiko","family":"Inagaki","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":"Noriyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Adachi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torayuki","family":"Okuyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yusei","family":"Nakata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Shimizu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hironori","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Oono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Iwamatsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michihiro","family":"Kono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Tomita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00598"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110229200"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng584"},{"key":"e_1_2_6_5_1","first-page":"1089","article-title":"Use of an in vitro immunoselected tumor line to identify shared melanoma antigens recognized by HLA\u2010A*0201\u2010restricted T cells","volume":"61","author":"Harada M.","year":"2001","journal-title":"Cancer Res."},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/382195"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2005.00261.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1186\/1297-9686-35-1-119","article-title":"A mutation in theMATP gene causes the cream coat colour in the horse","volume":"35","author":"Mariat D.","year":"2003","journal-title":"Genet. 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