Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 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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Pubblicato in:Life (Basel)
Autori principali: Ding, Qiuju, Kucharczyk, Róża, Zhao, Weiwei, Dautant, Alain, Xu, Shutian, Niedzwiecka, Katarzyna, Su, Xin, Giraud, Marie-France, Gombeau, Kewin, Zhang, Mingchao, Xie, Honglang, Zeng, Caihong, Bouhier, Marine, di Rago, Jean-Paul, Liu, Zhihong, Tribouillard-Tanvier, Déborah, Chen, Huimei
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7555451/
https://ncbi.nlm.nih.gov/pubmed/32971864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/life10090215
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