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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Life (Basel)
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky