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Intron 7 conserved sequence elements regulate the splicing of the SMN genes

Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. In humans there are two nearly identical SMN genes, SMN1 and SMN2. The SMN2 gene generates a truncated protein, due to a C to T nucleotide alteration in exon 7, which le...

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Autors principals: Gladman, Jordan T., Chandler, Dawn S.
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891348/
https://ncbi.nlm.nih.gov/pubmed/19701774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-009-0733-7
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