{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T21:07:07Z","timestamp":1772831227459,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,7,16]],"date-time":"2009-07-16T00:00:00Z","timestamp":1247702400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Education, Science and Culture of Japan","award":["18390312"],"award-info":[{"award-number":["18390312"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculocutaneous albinism type IV (OCA4 [MIM606574]) caused by mutations of the <jats:italic>SLC45A2<\/jats:italic> gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. We had the opportunity to examine a Belgian boy of Moroccan descent with clinically severe OCA and screened the mutation in his <jats:italic>SLC45A2<\/jats:italic> gene. Sequencing of exon 1, of which the PCR product showed aberrant patterns in the SSCP gel, revealed that the patient was a homozygote for p.H38R mutation. We demonstrated that the p.H38R\u2010mutant protein was functionally incapable of melanin synthesis using melanocyte cultures (<jats:italic>under white<\/jats:italic> cells; <jats:italic>uw<\/jats:italic>) established from a mouse model of OCA4. This is the second report of the occurrence of OCA4 in a member of an African ethnic group. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32964","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T17:02:29Z","timestamp":1247850149000},"page":"1773-1776","source":"Crossref","is-referenced-by-count":11,"title":["Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in <i>SLC45A2<\/i>"],"prefix":"10.1002","volume":"149A","author":[{"given":"Takayuki","family":"Konno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Abe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masakazu","family":"Kawaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrien","family":"Storm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Biervliet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winnie","family":"Courtens","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"}]},{"given":"Tamio","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,16]]},"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":"10.1086\/382195"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0749.2006.00332.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2009.00549.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0003-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-148X.2008.00496.x"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10311"},{"key":"e_1_2_6_10_1","first-page":"1406","article-title":"SLC45A2 variations in Indian oculocutaneous albinism patients","volume":"13","author":"Sengupta M","year":"2007","journal-title":"Mol Vis"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2007.12.008"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06403.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32964","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32964","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:23:36Z","timestamp":1697603016000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32964"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,16]]},"references-count":11,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1002\/ajmg.a.32964"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32964","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,16]]}}}