Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin

American Journal of Human Genetics

Volumn 77, Issue 3, 2005, Pages 430-441

  Hakonen, Anna H ^a   Heiskanen, Silja ^a   Juvonen, Vesa ^d   Lappalainen, Ilse ^a   Luoma, Petri T ^a   Rantamäki, Maria ^f   Van Goethem, Gert ^g,h   Löfgren, Ann ^h   Hackman, Peter ^a,b   Paetau, Anders ^a   Kaakkola, Seppo ^b   Majamaa, Kari ^e   Varilo, Teppo ^a,c   Udd, Bjarne ^i,j   Kääriäinen, Helena ^e   Bindoff, Laurence A ^k   Suomalainen, Anu ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d TURKU UNIVERSITY HOSPITAL   (Finland)

^e UNIVERSITY OF TURKU   (Finland)

^f SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h UNIVERSITY OF ANTWERP   (Belgium)

ⁱ VAASA CENTRAL HOSPITAL   (Finland)

^j TAMPERE UNIVERSITY HOSPITAL   (Finland)

^k UNIVERSITY OF BERGEN   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; DNA POLYMERASE; MITOCHONDRIAL ENZYME;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BELGIUM; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DYSARTHRIA; ENZYME ACTIVE SITE; EUROPE; FEMALE; FINLAND; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INVOLUNTARY MOVEMENT; MALE; MENTAL DISEASE; MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME; NEUROLOGIC DISEASE; NORWAY; ONSET AGE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SEIZURE; SYMPTOMATOLOGY; UNITED KINGDOM;

ATAXIA;

EID: 23944508509     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/444548     Document Type: Article

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