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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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Detalhes bibliográficos
Publicado no:Life (Basel)
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha: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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