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Dual Masking of Specific Negative Splicing Regulatory Elements Resulted in Maximal Exon 7 Inclusion of SMN2 Gene

Spinal muscular atrophy (SMA) is a fatal autosomal recessive disease caused by survival motor neuron (SMN) protein insufficiency due to SMN1 mutations. Boosting SMN2 expression is a potential therapy for SMA. SMN2 has identical coding sequence as SMN1 except for a silent C-to-T transition at the 6th...

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Detalhes bibliográficos
Main Authors: Pao, Peng Wen, Wee, Keng Boon, Yee, Woon Chee, DwiPramono, Zacharias Aloysius
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3982506/
https://ncbi.nlm.nih.gov/pubmed/24317636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mt.2013.276
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