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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書誌詳細
出版年:Life (Basel)
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2020
主題:
Article
オンライン･アクセス: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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