Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial <i>ATP6</i> 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...
Main Authors: | , , , , , , , , , , , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2020-09-01
|
Series: | Life |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-1729/10/9/215 |