A new pathogenic POLG variant

A new pathogenic POLG variant

POLG gene mutations are the most common causes of inherited mitochondrial disorders. The enzyme produced by this gene is responsible for the replication and repair of mitochondrial DNA. To date, around 300 pathogenic variants have been described in this gene. The resulting clinical outcomes of POLG...

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Bibliographic Details
Main Authors: S. Nicholas Russo, Ekta G. Shah, William C. Copeland, Mary Kay Koenig
Format: Article
Language:English
Published: Elsevier 2022-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mitochondria
Mitochondrial depletion
Alpers-Huttenlocher syndrome
DNA polymerase gamma
POLG syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000507

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http://www.sciencedirect.com/science/article/pii/S2214426922000507

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