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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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Bibliografski detalji
Glavni autori: Kralovicova, Jana, Hwang, Gyulin, Asplund, A. Charlotta, Churbanov, Alexander, Smith, C. I. Edvard, Vorechovsky, Igor
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2011
Teme:
Online pristup: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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