Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin

Mutations in the catalytic subunit of the mitochondrial DNA polymerase γ (POLG) have been found to be an important cause of neurological disease. Recently, we and collaborators reported a new neurodegenerative disorder with autosomal recessive ataxia in four patients homozygous for two amino acid ch...

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Autori principali: Hakonen, Anna H., Heiskanen, Silja, Juvonen, Vesa, Lappalainen, Ilse, Luoma, Petri T., Rantamäki, Maria, Goethem, Gert Van, Löfgren, Ann, Hackman, Peter, Paetau, Anders, Kaakkola, Seppo, Majamaa, Kari, Varilo, Teppo, Udd, Bjarne, Kääriäinen, Helena, Bindoff, Laurence A., Suomalainen, Anu
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2005
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226208/
https://ncbi.nlm.nih.gov/pubmed/16080118
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