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Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate...
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| Pubblicato in: | BMC Med Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5562981/ https://ncbi.nlm.nih.gov/pubmed/28821231 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0439-y |
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