{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T10:07:25Z","timestamp":1781863645743,"version":"3.54.5"},"reference-count":23,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,6,1]],"date-time":"2015-06-01T00:00:00Z","timestamp":1433116800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81472871"],"award-info":[{"award-number":["81472871"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["31230046"],"award-info":[{"award-number":["31230046"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing","doi-asserted-by":"crossref","award":["7132073"],"award-info":[{"award-number":["7132073"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"crossref"}]},{"name":"State Key Laboratory of Molecular Developmental Biology of China","award":["2013-MDB-KF-03"],"award-info":[{"award-number":["2013-MDB-KF-03"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2015,6]]},"DOI":"10.1016\/j.jgg.2015.05.001","type":"journal-article","created":{"date-parts":[[2015,5,29]],"date-time":"2015-05-29T03:08:38Z","timestamp":1432868918000},"page":"279-286","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families"],"prefix":"10.1016","volume":"42","author":[{"given":"Ai-Hua","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Jie","family":"Zang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu-Min","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2015.05.001_bib1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.jdermsci.2004.06.007","article-title":"Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism","volume":"35","author":"Goto","year":"2004","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib2","doi-asserted-by":"crossref","first-page":"2442","DOI":"10.1038\/jid.2008.109","article-title":"Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type","volume":"128","author":"Hutton","year":"2008","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jgg.2015.05.001_bib3","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1167\/iovs.07-0791","article-title":"A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients","volume":"49","author":"Hutton","year":"2008","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib4","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1111\/pcmr.12137","article-title":"Neutral pH and copper ions promote eumelanogenesis after the dopachrome stage","volume":"26","author":"Ito","year":"2013","journal-title":"Pigment Cell Melanoma Res."},{"key":"10.1016\/j.jgg.2015.05.001_bib5","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1111\/j.1755-148X.2010.00755.x","article-title":"Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation","volume":"24","author":"Ito","year":"2011","journal-title":"Pigment Cell Melanoma Res."},{"key":"10.1016\/j.jgg.2015.05.001_bib6","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/humu.20309","article-title":"Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database","volume":"27","author":"Li","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2015.05.001_bib7","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1684\/ejd.2014.2304","article-title":"A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene","volume":"24","author":"Lin","year":"2014","journal-title":"Eur. J. Dermatol."},{"key":"10.1016\/j.jgg.2015.05.001_bib8","first-page":"3358","article-title":"A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China","volume":"124","author":"Lin","year":"2011","journal-title":"Chin. Med. J. (Engl.)"},{"key":"10.1016\/j.jgg.2015.05.001_bib9","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1111\/j.0022-202X.2005.23815.x","article-title":"Five novel mutations in tyrosinase gene of Japanese and Indian patients with oculocutaneous albinism type I (OCA1)","volume":"125","author":"Miyamura","year":"2005","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jgg.2015.05.001_bib10","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.jdermsci.2005.03.004","article-title":"Establishment of tyrosinase sequence database in normally pigmented Indians and Japanese for rapid determination of novel mutations","volume":"39","author":"Miyamura","year":"2005","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/pcmr.12167","article-title":"Increasing the complexity: new genes and new types of albinism","volume":"27","author":"Montoliu","year":"2014","journal-title":"Pigment Cell Melanoma Res."},{"key":"10.1016\/j.jgg.2015.05.001_bib12","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1034\/j.1600-0749.2003.00045.x","article-title":"Oculocutaneous albinism type 1: the last 100 years","volume":"16","author":"Oetting","year":"2003","journal-title":"Pigment Cell Res."},{"key":"10.1016\/j.jgg.2015.05.001_bib13","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1086\/522235","article-title":"A genome wide association study of skin pigmentation in a South Asian population","volume":"81","author":"Stokowski","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.jgg.2015.05.001_bib14","doi-asserted-by":"crossref","first-page":"2149","DOI":"10.1096\/fj.01-0216com","article-title":"Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins","volume":"15","author":"Toyofuku","year":"2001","journal-title":"FASEB J."},{"key":"10.1016\/j.jgg.2015.05.001_bib15","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.jdermsci.2008.07.002","article-title":"Four novel mutations of TYR gene in Chinese OCA1 patients","volume":"53","author":"Wang","year":"2009","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib16","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1016\/j.jdermsci.2009.07.007","article-title":"The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene","volume":"56","author":"Wei","year":"2009","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib17","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1038\/jid.2009.339","article-title":"A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism","volume":"130","author":"Wei","year":"2010","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jgg.2015.05.001_bib18","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jdermsci.2011.02.009","article-title":"Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism","volume":"62","author":"Wei","year":"2011","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib19","doi-asserted-by":"crossref","first-page":"226","DOI":"10.3760\/cma.j.issn.0366-6999.20121104","article-title":"Genetic analyses of Chinese patients with digenic oculocutaneous albinism","volume":"126","author":"Wei","year":"2013","journal-title":"Chin. Med. J. (Engl.)"},{"key":"10.1016\/j.jgg.2015.05.001_bib20","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1038\/jid.2013.49","article-title":"Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism","volume":"133","author":"Wei","year":"2013","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.jgg.2015.05.001_bib21","first-page":"327","article-title":"Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism","volume":"16","author":"Witkop","year":"1979","journal-title":"Ala J. Med. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib22","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.jdermsci.2011.09.005","article-title":"Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene","volume":"64","author":"Yamada","year":"2011","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.jgg.2015.05.001_bib23","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s12013-011-9234-0","article-title":"Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients","volume":"61","author":"Zhang","year":"2011","journal-title":"Cell Biochem. Biophys."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852715000806?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852715000806?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T11:27:19Z","timestamp":1761650839000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852715000806"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["S1673852715000806"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2015.05.001","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2015,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal Genotyping of Four Common Oculocutaneous Albinism Genes in 51 Chinese Families","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2015.05.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}