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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition
We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia. Post-mortem examination of two males revealed widespread neuronal loss, with the most striking finding being neuronal...
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| Main Authors: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2859154/ https://ncbi.nlm.nih.gov/pubmed/20395263 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq071 |
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