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SCIENCE TRANSLATIONAL MEDICINE, ISSN 1946-6234, 01/2012, Volume 4, Issue 118
Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited disorders. Although in research settings NGS has pinpointed causal... 
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | MEDICINE, RESEARCH & EXPERIMENTAL | GENETIC-VARIATION | DNA-POLYMERASE-GAMMA | DATABASE | HIGH-THROUGHPUT | COMPLEX I DEFICIENCY | MUTATIONS | ENCODED SUBUNIT | RESPIRATORY-CHAIN DISORDERS | GENOME BROWSER | CELL BIOLOGY
Journal Article
BRAIN, ISSN 0006-8950, 07/2006, Volume 129, pp. 1685 - 1692
We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C... 
Alpers | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | ataxia | hepatic | POLYMERASE-GAMMA MUTATIONS | ALPERS-SYNDROME | mitochondrial | POLG MUTATIONS | DELETIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | POLG
Journal Article
Clinical Neurophysiology, ISSN 1388-2457, 10/2017, Volume 128, Issue 10, pp. 2096 - 2097
Journal Article
Journal Article
Annual Review of Biochemistry, ISSN 0066-4154, 6/2016, Volume 85, Issue 1, pp. 133 - 160
Mammalian mitochondrial DNA (mtDNA) encodes 13 proteins that are essential for the function of the oxidative phosphorylation system, which is composed of four... 
replication | transcription | mtDNA | mitochondria | polymerase | respiratory chain | Polymerase | Replication | Mitochondria | MtDNA | Respiratory chain | Transcription | TERMINATION FACTOR MTERF | CIRCULAR DAUGHTER MOLECULES | BIOCHEMISTRY & MOLECULAR BIOLOGY | ACCESSORY SUBUNIT | MOUSE L-CELLS | POL-GAMMA-B | IN-VITRO | BASE EXCISION-REPAIR | POLYMERASE-GAMMA | TRANSCRIPTION FACTOR | RNA-POLYMERASE | Protein Biosynthesis | DNA, Mitochondrial - metabolism | Signal Transduction | Electron Transport - genetics | Gene Expression Regulation | Oxidative Phosphorylation | Models, Molecular | DNA Replication | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Mitochondrial Ribosomes - metabolism | Mammals | Mitochondria - ultrastructure | Protein Transport | Biological Evolution | Animals | Cell Nucleus - metabolism | DNA, Mitochondrial - genetics | Cell Nucleus - genetics | Mitochondria - genetics | Mitochondrial Proteins - metabolism | Mitochondrial Ribosomes - chemistry | Transcription, Genetic | Physiological aspects | Mitochondrial DNA | Nucleotide sequencing | Gene expression | Observations | Methods | DNA sequencing | transcription factor | accessory subunit | pol-gamma-b | polymerase-gamma | mouse l-cells | base excision-repair | Biokemi och molekylärbiologi | in-vitro | Biochemistry and Molecular Biology | circular daughter molecules | rna-polymerase | termination factor mterf
Journal Article