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Delivery of a read-through inducing compound, TC007, lessens the severity of a spinal muscular atrophy animal model

Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality and is caused by the loss of a functional SMN1 gene. In humans, there exists a nearly-identical copy gene known as SMN2 that encodes an identical protein as SMN1, but differs by a silent C to T transition within exon 7. T...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Mattis, Virginia B., Ebert, Allison D., Fosso, Marina Y., Chang, Cheng-Wei, Lorson, Christian L.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Oxford University Press 2009
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2748896/
https://ncbi.nlm.nih.gov/pubmed/19625298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp333
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