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Article

A novel ATP8 gene mutation in an infant with tetralogy of Fallot.

Cardiology in the young - 1 Jun 2014

Tansel Turkan, Paçal Ferda, Ustek Duran

Abstract excerpt

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...

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Identifiers

PMID: 23735083
DOI: 10.1017/S1047951113000668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23735083-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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