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CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) in humans is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the CNS white matter. Symptoms are variable and can include personality and behavioural changes. Patients with this disease have...
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| Main Authors: | , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2013
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3804858/ https://ncbi.nlm.nih.gov/pubmed/24145216 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep03013 |
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