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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822702/ https://www.ncbi.nlm.nih.gov/pubmed/22117566 http://dx.doi.org/10.1111/j.1582-4934.2011.01488.x |