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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...

詳細記述

保存先:
書誌詳細
主要な著者: Renbaum, Paul, Kellerman, Efrat, Jaron, Ranit, Geiger, Dan, Segel, Reeval, Lee, Ming, King, Mary Claire, Levy-Lahad, Ephrat
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2009
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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