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Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5′ splice site

Disease-associated silent mutations are considered to affect the accurate pre–messenger RNA (mRNA) splicing either by influencing regulatory elements, leading to exon skipping, or by creating a new cryptic splice site. This study describes a new molecular pathological mechanism by which a silent mut...

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Bibliografske podrobnosti
izdano v:Blood
Main Authors: Yadegari, Hamideh, Biswas, Arijit, Akhter, Mohammad Suhail, Driesen, Julia, Ivaskevicius, Vytautas, Marquardt, Natascha, Oldenburg, Johannes
Format: Artigo
Jezik:Inglês
Izdano: American Society of Hematology 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5161009/
https://ncbi.nlm.nih.gov/pubmed/27543438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-02-699686
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