Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

BMC Neurology

Volumn 11, Issue , 2011, Pages

  Schaller, André ^a   Hahn, Dagmar ^a   Jackson, Christopher B ^a   Kern, Ilse ^b   Chardot, Christophe ^b,c   Belli, Dominique C ^b   Gallati, Sabina ^a   Nuoffer, Jean Marc ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b Hopital des Enfants Hopitaux universitaires de Geneve   (Switzerland)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; VALPROIC ACID; DNA DIRECTED DNA POLYMERASE;

ACUTE LIVER FAILURE; ALPERS DISEASE; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER BIOPSY; MALE; PRESCHOOL CHILD; RNA SPLICING; SEIZURE; CULTURE TECHNIQUE; DNA SEQUENCE; FIBROBLAST; GENETICS; LIVER; METABOLISM; METHODOLOGY; MUTATION; OXIDATIVE PHOSPHORYLATION; SCHILDER DISEASE; SKELETAL MUSCLE;

CELL CULTURE TECHNIQUES; CHILD, PRESCHOOL; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FIBROBLASTS; HUMANS; LIVER; MALE; MUSCLE, SKELETAL; MUTATION; OXIDATIVE PHOSPHORYLATION; SEQUENCE ANALYSIS, DNA;

EID: 78651364800     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-11-4     Document Type: Article

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