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Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene
The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH, also know...
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主要な著者: | , , , , , , , |
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フォーマット: | Artigo |
言語: | Inglês |
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Elsevier
2009
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2725266/ https://ncbi.nlm.nih.gov/pubmed/19646678 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.006 |
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