A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

BACKGROUND: Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized by generalized incoordination, cerebellar atrophy, peripheral neuropathy, "oculomotor...

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Autores principales: Nicolaou, Paschalis, Georghiou, Anthi, Votsi, Christina, Middleton, Lefkos T, Zamba-Papanicolaou, Eleni, Christodoulou, Kyproula
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2008
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2330029/
https://ncbi.nlm.nih.gov/pubmed/18405395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-28
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