{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,17]],"date-time":"2022-04-17T14:46:10Z","timestamp":1650206770137},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["CURR MED SCI"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1007\/s11596-018-1965-3","type":"journal-article","created":{"date-parts":[[2018,10,20]],"date-time":"2018-10-20T01:02:46Z","timestamp":1539997366000},"page":"932-936","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1"],"prefix":"10.1007","volume":"38","author":[{"given":"Yan","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-fan","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao-wu","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kun","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2018,12,29]]},"reference":[{"issue":"4","key":"1965_CR1","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1089\/gtmb.2017.0211","volume":"22","author":"B Qiu","year":"2018","unstructured":"Qiu B, Ma T, Peng C, et al. Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. Genet Test Mol Biomarkers, 2018,22(4):252\u2013258","journal-title":"Genet Test Mol Biomarkers"},{"issue":"1","key":"1965_CR2","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s40001-017-0262-0","volume":"22","author":"B F\u00e1bos","year":"2017","unstructured":"F\u00e1bos B, Farkas K, T\u00f3th L, et al. Delineating the genetic heterogeneity of OCA in Hungarian patients. Eur J Med Res, 2017,22(1):20\u201327","journal-title":"Eur J Med Res"},{"issue":"5","key":"1965_CR3","first-page":"790","volume":"67","author":"H Gul","year":"2017","unstructured":"Gul H, Ali MZ, Khan E, et al. Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing. JPMA, 2017,67(5):790\u2013792","journal-title":"JPMA"},{"issue":"41","key":"1965_CR4","doi-asserted-by":"crossref","first-page":"70 345","DOI":"10.18632\/oncotarget.19697","volume":"8","author":"X Wang","year":"2017","unstructured":"Wang X, Zhu Y, Shen N, et al. Mutational analysis of a Chinese family with oculocutaneous albinism type 2. Oncotarget, 2017,8(41):70 345\u201370 355","journal-title":"Oncotarget"},{"issue":"6","key":"1965_CR5","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1002\/humu.22315","volume":"34","author":"DR Simeonov","year":"2013","unstructured":"Simeonov DR, Wang X, Wang C, et al. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat, 2013,34(6):827\u2013835","journal-title":"Hum Mutat"},{"issue":"3","key":"1965_CR6","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1167\/iovs.10-6091","volume":"52","author":"A Gargiulo","year":"2011","unstructured":"Gargiulo A, Testa F, Rossi S, et al. Molecular and clinical characterization of albinism in a large cohort of Italian patients. Invest Ophthalmol Vis Sci, 2011,52(3):1281\u20131289","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"12","key":"1965_CR7","doi-asserted-by":"publisher","first-page":"984","DOI":"10.7196\/SAMJ.7046","volume":"103","author":"P Manga","year":"2013","unstructured":"Manga P, Kerr R, Ramsay M, et al. Biology and genetics of oculocutaneous albinism and vitiligo-common pigmentation disorders in southern Africa. S Afr Med J, 2013,103(12):984\u2013988","journal-title":"S Afr Med J"},{"issue":"1","key":"1965_CR8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jdermsci.2007.12.008","volume":"51","author":"T Suzuki","year":"2008","unstructured":"Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci, 2008,51(1):1\u20139","journal-title":"J Dermatol Sci"},{"issue":"1","key":"1965_CR9","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/cge.12019","volume":"84","author":"T Kausar","year":"2013","unstructured":"Kausar T, Bhatti MA, Ali M, et al. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet, 2013,84(1):91\u201393","journal-title":"Clin Genet"},{"issue":"3","key":"1965_CR10","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.jdermsci.2015.11.012","volume":"81","author":"E Veniani","year":"2016","unstructured":"Veniani E, Mauri L, Manfredini E, et al. Detection of the first OCA6 Italian patient in a large cohort of albino subjects. J Dermatol Sci, 2016,81(3):208\u2013209","journal-title":"J Dermatol Sci"},{"issue":"51","key":"1965_CR11","doi-asserted-by":"crossref","first-page":"84 981","DOI":"10.18632\/oncotarget.13109","volume":"7","author":"X Wang","year":"2016","unstructured":"Wang X, Zhu Y, Shen N, et al. Mutation analysis of a Chinese family with oculocutaneous albinism. Oncotarget, 2016,7(51):84 981\u201384 988","journal-title":"Oncotarget"},{"key":"1965_CR12","doi-asserted-by":"publisher","first-page":"D1039","DOI":"10.1093\/nar\/gkx1039","volume":"46","author":"J Li","year":"2018","unstructured":"Li J, Shi L, Zhang K, et al. VarCards: an integrated genetic and clinical database for coding variants in the human genome. Nucleic Acids Res, 2018,46(D1):D1039\u2013D1048","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"1965_CR13","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc, 2009,4(7):1073\u20131081","journal-title":"Nat Protoc"},{"issue":"4","key":"1965_CR14","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, et al. MutationTaster2: mutation prediction for the deepsequencing age. Nat Methods, 2014,11(4):361\u2013362","journal-title":"Nat Methods"},{"issue":"4","key":"1965_CR15","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods, 2010,7(4):248\u2013249","journal-title":"Nat Methods"},{"issue":"3","key":"1965_CR16","doi-asserted-by":"publisher","first-page":"e143518","DOI":"10.1001\/jamaophthalmol.2014.3518","volume":"133","author":"RA Goldberg","year":"2015","unstructured":"Goldberg RA, Lally DR, Heier JS. Oculocutaneous albinism. JAMA Ophthalmol, 2015,133(3):e143518","journal-title":"JAMA Ophthalmol"},{"issue":"24","key":"1965_CR17","doi-asserted-by":"publisher","first-page":"12 848","DOI":"10.1021\/ic501829s","volume":"53","author":"E Buitrago","year":"2014","unstructured":"Buitrago E, Vuillamy A, Boumendjel A, et al. Exploring the interaction of N\/S compounds with a dicopper center: tyrosinase inhibition and model studies. Inorg Chem, 2014,53(24):12 848\u201312 858","journal-title":"Inorg Chem"},{"issue":"1","key":"1965_CR18","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/j.ijbiomac.2017.11.147","volume":"108","author":"M Rezaei","year":"2018","unstructured":"Rezaei M, Mohammadi HT, Mahdavi A, et al. Evaluation of thiazolidinone derivatives as a new class of mushroom tyrosinase inhibitors. Int J Biol Macromol, 2018,108(1):205\u2013213","journal-title":"Int J Biol Macromol"},{"issue":"9","key":"1965_CR19","doi-asserted-by":"publisher","first-page":"e106656","DOI":"10.1371\/journal.pone.0106656","volume":"9","author":"V Ghodsinejad Kalahroudi","year":"2014","unstructured":"Ghodsinejad Kalahroudi V, Kamalidehghan B, Arasteh Kani A, et al. Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). PloS one, 2014,9(9):e106656\u2013e106665","journal-title":"PloS one"},{"issue":"3","key":"1965_CR20","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1038\/jid.2009.339","volume":"130","author":"A Wei","year":"2010","unstructured":"Wei A, Wang Y, Long Y, et al. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol, 2010,130(3):716\u2013724","journal-title":"J Invest Dermatol"}],"container-title":["Current Medical Science"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11596-018-1965-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11596-018-1965-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11596-018-1965-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T16:25:06Z","timestamp":1605284706000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11596-018-1965-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,10]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["1965"],"URL":"https:\/\/doi.org\/10.1007\/s11596-018-1965-3","relation":{},"ISSN":["2096-5230","2523-899X"],"issn-type":[{"value":"2096-5230","type":"print"},{"value":"2523-899X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,10]]},"assertion":[{"value":"17 April 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 September 2018","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}