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Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial <i>ATP6</i> Gene and Its Functional Consequences on Yeast ATP Synthase

With the advent of next generation sequencing, the list of mitochondrial DNA (mtDNA) mutations identified in patients rapidly and continuously expands. They are frequently found in a limited number of cases, sometimes a single individual (as with the case herein reported) and in heterogeneous geneti...

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Principais autores: Qiuju Ding, Róża Kucharczyk, Weiwei Zhao, Alain Dautant, Shutian Xu, Katarzyna Niedzwiecka, Xin Su, Marie-France Giraud, Kewin Gombeau, Mingchao Zhang, Honglang Xie, Caihong Zeng, Marine Bouhier, Jean-Paul di Rago, Zhihong Liu, Déborah Tribouillard-Tanvier, Huimei Chen
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2020-09-01
Serier:Life
Fag:
<i>MT-ATP6</i>
m.8909T&gt
C
ATP synthase
nephropathy
oxidative phosphorylation
Online adgang:https://www.mdpi.com/2075-1729/10/9/215
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