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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555451/
https://www.ncbi.nlm.nih.gov/pubmed/32971864
http://dx.doi.org/10.3390/life10090215

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