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A Cell System for Phenotypic Screening of Modifiers of SMN2 Gene Expression and Function

Spinal muscular atrophy (SMA) is an inherited neurodegenerative disease caused by homozygous inactivation of the SMN1 gene and reduced levels of the survival motor neuron (SMN) protein. Since higher copy numbers of the nearly identical SMN2 gene reduce disease severity, to date most efforts to devel...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Li, Darrick K., Tisdale, Sarah, Espinoza-Derout, Jorge, Saieva, Luciano, Lotti, Francesco, Pellizzoni, Livio
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3744461/
https://ncbi.nlm.nih.gov/pubmed/23967270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0071965
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