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A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype

Proximal spinal muscular atrophy (SMA) is a neurodegenerative disease caused by low levels of the survival motor neuron (SMN) protein. In humans, SMN1 and SMN2 encode the SMN protein. In SMA patients, the SMN1 gene is lost and the remaining SMN2 gene only partially compensates. Mediated by a C>T...

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Detalhes bibliográficos
Main Authors: Gladman, Jordan T., Bebee, Thomas W., Edwards, Chris, Wang, Xueyong, Sahenk, Zarife, Rich, Mark M., Chandler, Dawn S.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2951869/
https://ncbi.nlm.nih.gov/pubmed/20705738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq343
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