Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

(2009) J D Stewart et al.   JOURNAL OF MEDICAL GENETICS

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ ( POLG1 )

(2008) R McFarland et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Juvenile Alpers Disease

(2008) Esko Wiltshire et al.   ARCHIVES OF NEUROLOGY

DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations

(2008) Sherine S.L. Chan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

(2008) Neil Ashley et al.   HUMAN MOLECULAR GENETICS

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

Inherited Mitochondrial Diseases of DNA Replication

(2007) William C. Copeland   Annual Review of Medicine