טוען...
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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Main Authors: | , , , , , , , |
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פורמט: | Artigo |
שפה: | Inglês |
יצא לאור: |
Elsevier
2009
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נושאים: | |
גישה מקוונת: | 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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