De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome

Mitochondrion

Volumn 9, Issue 5, 2009, Pages 340-345

  Chan, Sherine S L ^a   Naviaux, Robert K ^b   Basinger, Alice A ^c   Casas, Kari A ^d   Copeland, William C ^a  

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

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Division of Metabolic Genetics   (United States)

^d Trinity Mother Frances Hospitals and Clinics   (United States)

Author keywords

Alpers syndrome; De novo mutation; Haplotype insufficiency; Mitochondrial disease; Mitochondrial DNA replication; Nonsense mediated decay

Indexed keywords

COMPLEMENTARY DNA; DIAZEPAM; DNA DIRECTED DNA POLYMERASE GAMMA; ETIRACETAM; FOSPHENYTOIN SODIUM; LORAZEPAM; MIDAZOLAM; NUCLEOTIDE; PENTOBARBITAL; PHENOBARBITAL; RNA; TOPIRAMATE;

ALLELE; ALPERS DISEASE; ALTERNATIVE RNA SPLICING; ANASARCA; ARTICLE; ATELECTASIS; AUTOPSY; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CHILD; DEATH; DISEASE SEVERITY; DNA SYNTHESIS; FIBROBLAST CULTURE; GENE EXPRESSION; GENE INSERTION; GENE MUTATION; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LIVER FIBROSIS; MALE; MOLECULAR CLONING; MOLECULAR GENETICS; MOLECULAR MECHANICS; PATHOPHYSIOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA EXTRACTION; SEIZURE; STOP CODON;

BASE SEQUENCE; CODON, NONSENSE; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-DIRECTED DNA POLYMERASE; HAPLOTYPES; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; POINT MUTATION; RNA SPLICING; RNA STABILITY;

EID: 70149107240     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2009.05.002     Document Type: Article

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