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Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome
Aberrant splicing in exon 11 of the LMNA gene causes the premature aging disorder Hutchinson-Gilford Progeria Syndrome. A de novo C1824T mutation activates an internal alternative 5′ splice site, resulting in formation of the disease-causing progerin protein. The underlying mechanism for this 5′ spl...
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| Publicado no: | Nucleic Acids Res |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6582319/ https://ncbi.nlm.nih.gov/pubmed/31006814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz259 |
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