Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. Humans have a second SMN gene (SMN2) that is almost identical to SMN1. However, due to alternative splicing the...

詳細記述

保存先:
書誌詳細
出版年:Hum Mol Genet
主要な著者: Groen, Ewout J N, Perenthaler, Elena, Courtney, Natalie L, Jordan, Crispin Y, Shorrock, Hannah K, van der Hoorn, Dinja, Huang, Yu-Ting, Murray, Lyndsay M, Viero, Gabriella, Gillingwater, Thomas H
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2018
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6077828/
https://ncbi.nlm.nih.gov/pubmed/29790918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy195
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