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Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2

Spinal muscular atrophy is a neurodegenerative disorder caused by the deletion or mutation of the survival-of-motor-neuron gene, SMN1. An SMN1 paralog, SMN2, differs by a C→T transition in exon 7 that causes substantial skipping of this exon, such that SMN2 expresses only low levels of functional pr...

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Autori principali: Cartegni, Luca, Hastings, Michelle L., Calarco, John A., Stanchina, Elisa de, Krainer, Adrian R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2006
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380224/
https://ncbi.nlm.nih.gov/pubmed/16385450
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