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Article

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.

Biochimica et biophysica acta - 1 Jul 2007

Baracca Alessandra, Sgarbi Gianluca, Mattiazzi Marina, Casalena Gabriella, Pagnotta Eleonora, Valentino Maria L, Moggio Maurizio, Lenaz Giorgio, Carelli Valerio, Solaini Giancarlo

Abstract excerpt

Two point mutations (T>G and T>C) at the same 8993 nucleotide of mitochondrial DNA (at comparable mutant load), affecting the ATPase 6 subunit of the F1F0-ATPase, result in neurological phenotypes of variable severity in humans. We have investigated mitochondrial function in lymphocytes from indi...

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Identifiers

PMID: 17568559
DOI: 10.1016/j.bbabio.2007.05.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17568559-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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