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Loss of exon identity is a common mechanism of human inherited disease

It is widely accepted that at least 10% of all mutations causing human inherited disease disrupt splice-site consensus sequences. In contrast to splice-site mutations, the role of auxiliary cis-acting elements such as exonic splicing enhancers (ESE) and exonic splicing silencers (ESS) in human inher...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Sterne-Weiler, Timothy, Howard, Jonathan, Mort, Matthew, Cooper, David N., Sanford, Jeremy R.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Cold Spring Harbor Laboratory Press 2011
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3202274/
https://ncbi.nlm.nih.gov/pubmed/21750108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.118638.110
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