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Altered apoptosis regulation in Kufor–Rakeb syndrome patients with mutations in the ATP13A2 gene

ATP13A2 gene encodes for a protein of the group 5 P-type ATPase family. ATP13A2 mutations are responsible for Kufor–Rakeb syndrome (KRS), a rare autosomal recessive juvenile parkinsonism characterized by the subacute onset of extrapyramidal, pyramidal and cognitive dysfunction with secondary nonresp...

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Detalhes bibliográficos
Main Authors: Radi, Elena, Formichi, Patrizia, Maio, Giuseppe Di, Battisti, Carla, Federico, Antonio
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Publishing Ltd 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3822702/
https://ncbi.nlm.nih.gov/pubmed/22117566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1582-4934.2011.01488.x
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