Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Erdinc D et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.
Darin N et al.
Neuromuscular Disorders : Nmd, 2021
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