{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T07:47:57Z","timestamp":1769500077642,"version":"3.49.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Mol Genet"],"published-print":{"date-parts":[[1994]]},"DOI":"10.1093\/hmg\/3.6.861","type":"journal-article","created":{"date-parts":[[2007,1,4]],"date-time":"2007-01-04T10:44:26Z","timestamp":1167907466000},"page":"861-866","source":"Crossref","is-referenced-by-count":95,"title":["Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common \u03b1-L-iduronidase mutations (W402X and Q70X) among European patients"],"prefix":"10.1093","volume":"3","author":[{"given":"Susanna","family":"Bunge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim J.","family":"Kleijer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cordula","family":"Steglich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"Zuther","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.Phillip","family":"Morris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eberhard","family":"Schwinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J.","family":"Hopwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamish S.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/3\/6\/861\/1608011\/3-6-861.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T02:52:34Z","timestamp":1503456754000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/3.6.861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994]]},"references-count":0,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1994]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/3.6.861","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994]]}}}