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

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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Autors principals: 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: Article
Idioma:English
Publicat: MDPI AG 2020-09-01
Col·lecció:Life
Matèries:
<i>MT-ATP6</i>
m.8909T&gt
C
ATP synthase
nephropathy
oxidative phosphorylation
Accés en línia:https://www.mdpi.com/2075-1729/10/9/215

Internet

https://www.mdpi.com/2075-1729/10/9/215

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