{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:49:42Z","timestamp":1761310182089},"reference-count":0,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[1992,6,1]],"date-time":"1992-06-01T00:00:00Z","timestamp":707356800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1992,6]]},"DOI":"10.1007\/bf00194310","type":"journal-article","created":{"date-parts":[[2004,8,27]],"date-time":"2004-08-27T09:49:21Z","timestamp":1093600161000},"source":"Crossref","is-referenced-by-count":23,"title":["Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests"],"prefix":"10.1007","volume":"89","author":[{"given":"Suzanne","family":"Marcus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann-Marie","family":"Steen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bj\ufffdrn","family":"Andersson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulf","family":"Kristoffersson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Uta","family":"Francke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00194310.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00194310\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00194310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T15:43:59Z","timestamp":1554738239000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00194310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,6]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992,6]]}},"alternative-id":["BF00194310"],"URL":"https:\/\/doi.org\/10.1007\/bf00194310","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,6]]}}}