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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Pellizzoni, Livio, Charroux, Bernard, Dreyfuss, Gideon
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The National Academy of Sciences 1999
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC18005/
https://ncbi.nlm.nih.gov/pubmed/10500148
Tagiau: Ychwanegu Tag
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