Screening for POLG1 mutations in a Southern Italian ataxia population

Journal of Neurology

Volumn 255, Issue 3, 2008, Pages 454-455

  Criscuolo, C ^a,b   Mancini, P ^a   Ammendola, S ^a   Cicala, D ^a   Banfi, S ^b   De Michele, G ^a   Filla, A ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; DNA DIRECTED DNA POLYMERASE GAMMA;

ALPERS DISEASE; AMINO TERMINAL SEQUENCE; ATAXIA; CARBOXY TERMINAL SEQUENCE; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA BINDING; ENZYME ACTIVE SITE; FRIEDREICH ATAXIA; GENE CONTROL; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HEPATIC ENCEPHALOPATHY; HUMAN; HYPOGONADISM; LETTER; MAMMAL CELL; MITOCHONDRIAL DNA REPLICATION; PERIPHERAL NEUROPATHY; PHENOTYPE; POPULATION; PRIORITY JOURNAL; SCREENING TEST; STATISTICAL SIGNIFICANCE; SYMPTOMATOLOGY; WILD TYPE;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; ATAXIA; CHILD; CHILD, PRESCHOOL; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION;

EID: 41149114217     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-007-0736-z     Document Type: Letter

References (8)

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