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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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Blackwell Publishing Ltd
2012
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| Soggetti: | |
| Accesso online: | 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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