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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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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Jourdy, Yohann, Janin, Alexandre, Fretigny, Mathilde, Lienhart, Anne, Négrier, Claude, Bozon, Dominique, Vinciguerra, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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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