{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T12:13:41Z","timestamp":1769343221517,"version":"3.49.0"},"reference-count":23,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2009,8,13]],"date-time":"2009-08-13T00:00:00Z","timestamp":1250121600000},"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":[[2009,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We analysed the GATA binding protein 4 gene, or <jats:italic>GATA4<\/jats:italic>, along with the NK2 transcription factor related, locus 5 gene, or <jats:italic>NKX2.5<\/jats:italic>, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot. We found only 1 novel mutation of <jats:italic>GATA4<\/jats:italic> in those with atrial septal defecst. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of <jats:italic>GATA4<\/jats:italic> can cause sporadic atrial septal defects. We failed to discover any other mutations of either the <jats:italic>GATA4<\/jats:italic> or <jats:italic>NKX2-5<\/jats:italic> genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.<\/jats:p>","DOI":"10.1017\/s1047951109990813","type":"journal-article","created":{"date-parts":[[2009,8,13]],"date-time":"2009-08-13T08:24:14Z","timestamp":1250151854000},"page":"482-485","source":"Crossref","is-referenced-by-count":17,"title":["Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of <i>GATA4<\/i> in those with atrial septal defects"],"prefix":"10.1017","volume":"19","author":[{"given":"Haruka","family":"Hamanoue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sri 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