POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome

Mitochondrion

Volumn 11, Issue 1, 2011, Pages 223-227

  Mousson de Camaret, Bénédicte ^a   Chassagne, Maïté ^a   Mayençon, Martine ^a   Padet, Sylvie ^a   Crehalet, Hervé ^a   Clerc Renaud, Pascale ^a   Rouvet, Isabelle ^a   Zabot, Marie Thérèse ^a   Rivier, François ^b   Sarda, Pierre ^c   des Portes, Vincent ^d   Bozon, Dominique ^a  

^a HOSPICES CIVILS DE LYON   (France)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

^d UNIVERSITÉ LYON 1   (France)

Author keywords

Alpers syndrome; DNA polymerase ; Exon skipping; POLG variation; RNA splicing

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA;

ALPERS DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; DNA SPLICING; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME POLYMORPHISM; EXON; EXON SKIPPING; FEMALE; GENE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLG GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN FIBROBLAST; STOP CODON;

CHILD, PRESCHOOL; CODON, NONSENSE; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-DIRECTED DNA POLYMERASE; EXONS; FATAL OUTCOME; FEMALE; FIBROBLASTS; GENETIC VARIATION; HUMANS; MALE; MITOCHONDRIA; MUTATION; RNA SPLICING; SEQUENCE ANALYSIS, DNA;

EID: 78650022501     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.07.011     Document Type: Article

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