{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:26:25Z","timestamp":1761596785428},"reference-count":3,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,6,1]],"date-time":"2002-06-01T00:00:00Z","timestamp":1022889600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2002,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.<\/jats:p>","DOI":"10.1023\/a:1016518811940","type":"journal-article","created":{"date-parts":[[2002,12,29]],"date-time":"2002-12-29T03:32:49Z","timestamp":1041132769000},"page":"323-324","source":"Crossref","is-referenced-by-count":11,"title":["Sequence analysis of Hungarian LHON patients not carrying the common primary mutations"],"prefix":"10.1002","volume":"25","author":[{"given":"J.","family":"Horvath","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurosciences Geneva University Hospital  Rue Micheli\u2010du\u2010Crest 24 Geneva 1211 Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Horvath","sequence":"additional","affiliation":[{"name":"Metabolic Disease Center Munich\u2010Schwabing  Muenchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Karcagi","sequence":"additional","affiliation":[{"name":"Department of Applied Biochemistry Fodor Jozsef National Center for Public Health  Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Komoly","sequence":"additional","affiliation":[{"name":"Department of Neurology Jahn Ferenc Hospital  Budapest Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. R.","family":"Johns","sequence":"additional","affiliation":[{"name":"Department of Neurology Beth Israel Deaconess Medical Center  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2728(92)90001-I"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247339"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1016518811940","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1016518811940","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:47:03Z","timestamp":1694814423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1016518811940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6]]},"references-count":3,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,6]]}},"alternative-id":["10.1023\/A:1016518811940"],"URL":"https:\/\/doi.org\/10.1023\/a:1016518811940","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6]]}}}