{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,22]],"date-time":"2025-11-22T11:00:18Z","timestamp":1763809218822},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"3","license":[{"start":{"date-parts":[[2013,6,5]],"date-time":"2013-06-05T00:00:00Z","timestamp":1370390400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro &gt; Leu missense mutation in the MT-ATP8 gene was identified.<\/jats:p>","DOI":"10.1017\/s1047951113000668","type":"journal-article","created":{"date-parts":[[2013,6,5]],"date-time":"2013-06-05T08:51:35Z","timestamp":1370422295000},"page":"531-533","source":"Crossref","is-referenced-by-count":11,"title":["A novel ATP8 gene mutation in an infant with tetralogy of Fallot"],"prefix":"10.1017","volume":"24","author":[{"given":"Turkan","family":"Tansel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda","family":"Pa\u00e7al","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Duran","family":"Ustek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2013,6,5]]},"reference":[{"key":"S1047951113000668_ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.014"},{"key":"S1047951113000668_ref2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200956"},{"key":"S1047951113000668_ref3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)8:3<216::AID-HUMU4>3.0.CO;2-7"},{"key":"S1047951113000668_ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0012295"},{"key":"S1047951113000668_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.05.059"},{"key":"S1047951113000668_ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000081015"},{"key":"S1047951113000668_ref9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr373"},{"key":"S1047951113000668_ref10","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2001.57"},{"key":"S1047951113000668_ref4","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e328306ebb6"},{"key":"S1047951113000668_ref6","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat Genet"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951113000668","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,22]],"date-time":"2019-04-22T20:12:15Z","timestamp":1555963935000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951113000668\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,5]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S1047951113000668"],"URL":"https:\/\/doi.org\/10.1017\/s1047951113000668","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,5]]}}}