Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the diease severity in mitochondrial disorder patients

Human Molecular Genetics

Volumn 22, Issue 6, 2013, Pages 1074-1085

  Sohl, Christal D ^a   Kasiviswanathan, Rajesh ^b   Copeland, William C ^b   Anderson, Karen S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYADENOSINE TRIPHOSPHATE; DEOXYCYTIDINE TRIPHOSPHATE; DEOXYRIBONUCLEOTIDE; DNA DIRECTED DNA POLYMERASE GAMMA;

ALPERS DISEASE; ARTICLE; BACTERIOPHAGE T7; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CRYSTAL STRUCTURE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISSOCIATION CONSTANT; DNA BINDING; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME DEFECT; GEL MOBILITY SHIFT ASSAY; GENE MUTATION; HUMAN; IN VITRO STUDY; MITOCHONDRIAL GENOME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PURIFICATION;

BIOCATALYSIS; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE;

EID: 84874513478     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds509     Document Type: Article

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