The pathogenic m.8993T>G mutation in mitochondrial ATP6 gene prevents proton release from the subunit c-ring rotor of ATP synthase
Authors: Xin Su, Alain Dautant, Malgorzata Rak, François Godard, Nahia Ezkurdia, Marine Bouhier, Maïlis Bietenhader, David M. Mueller, Roza Kucharczyk, Jean-Paul di Rago, and Déborah Tribouillard-Tanvier
Published in: Human Molecular Genetics
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q1