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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons leading to progressive lower limb spasticity and weakness. Intracellular membrane trafficking, mitochondrial dysfunction and myelin fo...
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| Asıl Yazarlar: | , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Nature Publishing Group
2013
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3798837/ https://ncbi.nlm.nih.gov/pubmed/23486545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.29 |
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