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...
Main Authors: | S. Nicholas Russo, Ekta G. Shah, William C. Copeland, Mary Kay Koenig |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-09-01
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Series: | Molecular Genetics and Metabolism Reports |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426922000507 |
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