Associated Papers
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ et al.
Human Mutation, 2008
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