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Spinal Muscular Atrophy: Why do low levels of SMN make motor neurons sick?

Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes. Spinal muscular atrophy is one such disorder and is caused by loss or mutation of the survival motor neuron 1 gene (SMN1), leading to reduced SMN protein levels and a selective dysfunction of motor neurons. SMN,...

詳細記述

保存先:
書誌詳細
主要な著者: Burghes, Arthur H.M., Beattie, Christine E.
フォーマット: Artigo
言語:Inglês
出版事項: 2009
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2853768/
https://ncbi.nlm.nih.gov/pubmed/19584893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrn2670
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