{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T23:50:49Z","timestamp":1789084249643,"version":"build-2803163510"},"reference-count":27,"publisher":"Hindawi Limited","issue":"6","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":8278,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[1993]]},"DOI":"10.1002\/humu.1380020603","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:10:14Z","timestamp":1118531414000},"page":"435-442","source":"Crossref","is-referenced-by-count":115,"title":["Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene"],"prefix":"10.1155","volume":"2","author":[{"given":"J. J.","family":"Hopwood","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Bunge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. P.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. J.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Steglich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Schwinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380020603-BIB1","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ajmg.1320440123","volume":"44","author":"Beck","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.1002\/humu.1380020603-BIB2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1042\/bj2710075","volume":"271","author":"Bielicki","year":"1990","journal-title":"Biochem J"},{"key":"10.1002\/humu.1380020603-BIB3","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1093\/hmg\/1.5.335","volume":"1","author":"Bunge","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380020603-BIB4","author":"Bunge","year":"1993","unstructured":"(1993) Iduronate-2-sulfatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet (in press)."},{"key":"10.1002\/humu.1380020603-BIB5","first-page":"316","volume":"51","author":"Clarke","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020603-BIB6","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1093\/hmg\/1.9.755","volume":"1","author":"Crotty","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380020603-BIB7","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/0888-7543(92)90123-A","volume":"13","author":"Flomen","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020603-BIB8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1093\/hmg\/2.1.5","volume":"2","author":"Flomen","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380020603-BIB9","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/978-1-4899-2444-5_13","volume-title":"Heparin and Related Polysaccharides","author":"Freeman","year":"1992","unstructured":"(1992) Lysosomal degradation of heparin and heparan sulphate. In et al. (eds): Heparin and Related Polysaccharides. New York: Plenum Press, pp 121-134."},{"key":"10.1002\/humu.1380020603-BIB10","author":"Froissart","year":"1993","unstructured":"(1993) Hunter syndrome: Gene deletions and rearrangements, carrier detection. Hum Mutat, in press."},{"key":"10.1002\/humu.1380020603-BIB11","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1007\/BF02435972","volume":"15","author":"Gal","year":"1992","journal-title":"J Inher Metab Dis"},{"key":"10.1002\/humu.1380020603-BIB12","first-page":"381","volume":"7","author":"Hopwood","year":"1990","journal-title":"Mol Biol Med"},{"key":"10.1002\/humu.1380020603-BIB13","first-page":"a174","volume":"51","author":"Muenzer","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380020603-BIB14","first-page":"1565","volume-title":"The Metabolic Basis of Inherited Disease","author":"Neufeld","year":"1989","unstructured":"(1989) The mucopolysaccharidoses. In (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York: McGrawHill, pp 1565-1587."},{"key":"10.1002\/humu.1380020603-BIB15","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/0888-7543(92)90405-H","volume":"12","author":"Palmieri","year":"1992","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020603-BIB16","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/S0022-3476(86)80377-8","volume":"109","author":"Schmickel","year":"1986","journal-title":"J. Pediat"},{"key":"10.1002\/humu.1380020603-BIB17","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/BF00219688","volume":"92","author":"Steglich","year":"1993","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020603-BIB18","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/hmg\/1.3.195","volume":"1","author":"Ste\u00e9n-Bondeson","year":"1992","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.1380020603-BIB19","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1016\/0006-291X(92)90555-Y","volume":"183","author":"Sukegawa","year":"1992","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.1380020603-BIB20","author":"Sukegawa","year":"1993","unstructured":"(1993) Molecular analysis of mucopolysaccharidosis type II (Hunter Disease). International Symposium on the Mucopolysaccharidoses, Essen, 28-31 May 1993 (abstract)."},{"key":"10.1002\/humu.1380020603-BIB21","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/0006-291X(91)91244-7","volume":"181","author":"Tomastu","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.1380020603-BIB22","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1007\/BF00194316","volume":"89","author":"Wehnert","year":"1992","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020603-BIB23","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1006\/geno.1993.1406","volume":"17","author":"Wilson","year":"1993","journal-title":"Genomics"},{"key":"10.1002\/humu.1380020603-BIB24","doi-asserted-by":"crossref","first-page":"8531","DOI":"10.1073\/pnas.87.21.8531","volume":"87","author":"Wilson","year":"1990","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380020603-BIB25","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/BF00194643","volume":"86","author":"Wilson","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020603-BIB26","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00204183","volume":"87","author":"Wraith","year":"1991","journal-title":"Hum Genet"},{"key":"10.1002\/humu.1380020603-BIB27","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1007\/BF00219675","volume":"92","author":"Yamada","year":"1993","journal-title":"Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380020603","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380020603","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:48:31Z","timestamp":1672332511000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380020603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380020603","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993]]}}}