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SMN mutants of spinal muscular atrophy patients are defective in binding to snRNP proteins

Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease and the leading genetic cause of death of young children. The survival of motor neurons (SMN) gene, the SMA disease gene, is homozygously deleted or mutated in more than 98% of SMA patients. The SMN protein interacts with it...

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Autors principals: Pellizzoni, Livio, Charroux, Bernard, Dreyfuss, Gideon
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC18005/
https://ncbi.nlm.nih.gov/pubmed/10500148
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