The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. An almost identical SMN2 gene is unable to compensate for this deficiency because a single C-to-T transition at position +6 in exon-7 causes skipping of the...

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Библиографические подробности
Главные авторы: Pedrotti, Simona, Bielli, Pamela, Paronetto, Maria Paola, Ciccosanti, Fabiola, Fimia, Gian Maria, Stamm, Stefan, Manley, James L, Sette, Claudio
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2010
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2857462/
https://ncbi.nlm.nih.gov/pubmed/20186123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/emboj.2010.19
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