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Compensatory signals associated with the activation of human GC 5′ splice sites
GC 5′ splice sites (5′ss) are present in ∼1% of human introns, but factors promoting their efficient selection are poorly understood. Here, we describe a case of X-linked agammaglobulinemia resulting from a GC 5′ss activated by a mutation in BTK intron 3. This GC 5′ss was intrinsically weak, yet it...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3167603/ https://ncbi.nlm.nih.gov/pubmed/21609956 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkr306 |
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