Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism

Journal of Medical Genetics

Volumn 45, Issue 9, 2008, Pages 596-602

  Piccoli, C ^a   Ripoli, M ^a   Quarato, G ^a   Scrima, R ^a   D'Aprile, A ^a   Boffoli, D ^a   Margaglione, M ^a   Criscuolo, C ^b   De Michele, G ^b   Sardanelli, A ^c   Papa, S ^c,d   Capitanio, N ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE INDUCED KINASE 1; PROTEIN KINASE; PROTEIN PINK1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUPEROXIDE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CONFOCAL MICROSCOPY; DNA SEQUENCE; ENZYME KINETICS; FIBROBLAST CULTURE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; ONSET AGE; OXIDATIVE PHOSPHORYLATION; PARKINSON DISEASE; PARKINSONISM; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; MUTATION, MISSENSE; OXIDATIVE PHOSPHORYLATION; PARKINSONIAN DISORDERS; PHENOTYPE; PROTEIN KINASES; SUPEROXIDES;

EID: 51849137779     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2008.058628     Document Type: Article

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