{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T21:17:49Z","timestamp":1787001469326,"version":"build-2736575974"},"reference-count":3,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"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":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The 5703G&gt;A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue\u2010specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and \u2018extremely thin appearance\u2019. We report a second patient with the same mutation and phenotype.<\/jats:p>","DOI":"10.1023\/a:1025133629685","type":"journal-article","created":{"date-parts":[[2003,9,16]],"date-time":"2003-09-16T18:25:03Z","timestamp":1063736703000},"page":"507-508","source":"Crossref","is-referenced-by-count":18,"title":["Genotype\u2013phenotype correlation in the 5703G&gt;A mutation in the tRNA\n                    <sup>Asn<\/sup>\n                    gene of mitochondrial DNA"],"prefix":"10.1002","volume":"26","author":[{"given":"C.","family":"Vives\u2010Bauza","sequence":"first","affiliation":[{"name":"Centre d'Investigacions en Bioqu\u00edmica i Biolog\u00eda Molecular Hospital Universitari Vall d'Hebron  Barcelona"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Del Toro","sequence":"additional","affiliation":[{"name":"Secci\u00f3 de Neurologia Infantil Hospital Universitari Vall d'Hebron  Barcelona"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Solano","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular Universidad de Zaragoza  Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Montoya","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular Universidad de Zaragoza  Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. L.","family":"Andreu","sequence":"additional","affiliation":[{"name":"Centre d'Investigacions en Bioqu\u00edmica i Biolog\u00eda Molecular Hospital Universitari Vall d'Hebron  Barcelona"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Roig","sequence":"additional","affiliation":[{"name":"Secci\u00f3 de Neurologia Infantil Hospital Universitari Vall d'Hebron  Barcelona"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.51.1.258"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.17.12.6831"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-368"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1025133629685","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1025133629685","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T09:01:14Z","timestamp":1694768474000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1025133629685"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7]]},"references-count":3,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1023\/A:1025133629685"],"URL":"https:\/\/doi.org\/10.1023\/a:1025133629685","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7]]}}}