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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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| 發表在: | BMC Med Genet |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2017
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| 主題: | |
| 在線閱讀: | 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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