{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:40:03Z","timestamp":1760733603574,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,7]]},"abstract":"<jats:p>We detected a nonsense mutation in the tyrosinase gene of two Afghan sibs with classical tyrosinase negative (type IA) oculocutaneous albinism. The mutation, a single base substitution at codon 178, creates an amber termination codon that truncates the 529 amino acid tyrosinase polypeptide at this position. The patients' parents are first cousins, and the patients are therefore homoallelic for this mutation.<\/jats:p>","DOI":"10.1136\/jmg.28.7.464","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"464-467","source":"Crossref","is-referenced-by-count":30,"title":["A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism."],"prefix":"10.1136","volume":"28","author":[{"given":"L B","family":"Giebel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Musarella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R A","family":"Spritz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/S0733-8635(18)30668-5","article-title":"Albinism","volume":"6","author":"King, R.A.; Summers, C.G.","year":"1988","unstructured":"King RA, Summers CG. Albinism. Dermatol Clin 1988;6:217-28.","journal-title":"Dermatol Clin"},{"key":"ref_2","article-title":"The metabolic basis of inherited disease","author":"CJ, Jr, Witkop; TB, Fitzpatrick; RA, King","year":"1989","unstructured":"Witkop CJ Jr, Fitzpatrick TB, King RA. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"7473","DOI":"10.1073\/pnas.84.21.7473","article-title":"Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus","volume":"84","author":"Kwon, B.S.; Haq, A.K.; Pomerantz, S.H.; Halaban, R.","year":"1987","unstructured":"Kwon BS, Haq AK, Pomerantz SH, Halaban R. Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus. 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Genomtics 1991;9:435-45.","journal-title":"Genomtics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/0006-291X(89)91767-1","article-title":"Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene","volume":"164","author":"Tomita, Y.; Takeda, A.; Okinaga, S.; Tagami, H.; Shibahara, S.","year":"1989","unstructured":"Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun 1989;164: 990-6.","journal-title":"Biochem Biophys Res Commun"},{"key":"ref_10","first-page":"123","article-title":"Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA","volume":"85","author":"Kikuchi, H.; Hara, S.; Ishiguro, S.; Tamai, M.; Watanabe, M.","year":"1990","unstructured":"Kikuchi H, Hara S, Ishiguro S, Tamai M, Watanabe M. 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Gene Expression (in press).","journal-title":"Gene Expression"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.7.464","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:06:30Z","timestamp":1760731590000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.7.464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,7]]},"references-count":20,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1991,7,1]]},"published-print":{"date-parts":[[1991,7]]}},"alternative-id":["10.1136\/jmg.28.7.464"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.7.464","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,7]]}}}