André Schaller Dagmar Hahn Christopher B Jackson Ilse Kern Christophe Chardot Dominique C Belli Sabina Gallati Jean-Marc Nuoffer
10.1186/1471-2377-11-4
BMC Neurol
2011 Jan 14;11:4.
CC BY
https://pubmed.ncbi.nlm.nih.gov/21235791/
DNA, Mitochondrial / metabolism DNA-Directed DNA Polymerase / genetics Diffuse Cerebral Sclerosis of Schilder / genetics Mutation / genetics
DNA, Mitochondrial / metabolism DNA-Directed DNA Polymerase / genetics Diffuse Cerebral Sclerosis of Schilder / genetics Mutation / genetics Case Reports Research Support, Non-U.S. Gov't Cell Culture Techniques Child, Preschool DNA Polymerase gamma Diffuse Cerebral Sclerosis of Schilder / metabolism Fibroblasts / metabolism Humans Liver / metabolism Male Muscle, Skeletal / metabolism Oxidative Phosphorylation Sequence Analysis, DNA / methods DNA, Mitochondrial DNA Polymerase gamma DNA-Directed DNA Polymerase
PMC3032677
21235791
Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome
2011