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A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by homozygous loss of the Survival Motor Neuron 1 (SMN1) gene. In the absence of SMN1, inefficient inclusion of exon 7 in transcripts from the nearly identical SMN2 gene results in ubiquitous SMN decrease but selective motor n...

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書誌詳細
主要な著者: Ruggiu, Matteo, McGovern, Vicki L., Lotti, Francesco, Saieva, Luciano, Li, Darrick K., Kariya, Shingo, Monani, Umrao R., Burghes, Arthur H. M., Pellizzoni, Livio
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Microbiology 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3255708/
https://ncbi.nlm.nih.gov/pubmed/22037760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.06077-11
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