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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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Hlavní autoři: Pellizzoni, Livio, Charroux, Bernard, Dreyfuss, Gideon
Médium: Artigo
Jazyk:Inglês
Vydáno: The National Academy of Sciences 1999
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC18005/
https://ncbi.nlm.nih.gov/pubmed/10500148
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