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Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization
Incorporation of distant intronic sequences in mature mRNA is an underappreciated cause of genetic disease. Several disease-causing pseudoexons have been found to contain repetitive elements such as Alu elements. This study describes an original pathological mechanism by which a small intronic delet...
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| Publicado no: | Am J Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5985402/ https://ncbi.nlm.nih.gov/pubmed/29357978 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.010 |
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