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Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
Myelination is a complex, developmentally regulated process whereby myelin proteins and lipids are coordinately expressed by myelinating glial cells. Homozygosity mapping in nine patients with childhood onset spasticity, dystonia, cognitive dysfunction, and periventricular white matter disease revea...
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| Main Authors: | , , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Elsevier
2008
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2668027/ https://ncbi.nlm.nih.gov/pubmed/19068277 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.010 |
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