Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its...
Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase
About this item
Full title
Author / Creator
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 and Chen, Huimei
Publisher
MDPI
Journal title
Language
English
Formats
Publication information
Publisher
MDPI
Subjects
More information
Scope and Contents
Contents
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 genetic backgrounds (heteroplasmy), which makes it diffi...
Alternative Titles
Full title
Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_33eb3efac2fb4d309d924a73edc4cc0a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_33eb3efac2fb4d309d924a73edc4cc0a
Other Identifiers
ISSN
2075-1729
E-ISSN
2075-1729
DOI
10.3390/life10090215
