Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity

Dissection of pleiotropic effects of missense mutations, rarely investigated in inherited diseases, is fundamental to understanding genotype-phenotype relationships. Missense mutations might impair mRNA processing in addition to protein properties. As a model for hemophilia A, we investigated the hi...

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Detalles Bibliográficos
Autores principales: Donadon, Irving, McVey, John H., Garagiola, Isabella, Branchini, Alessio, Mortarino, Mimosa, Peyvandi, Flora, Bernardi, Francesco, Pinotti, Mirko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792279/
https://www.ncbi.nlm.nih.gov/pubmed/29170251
http://dx.doi.org/10.3324/haematol.2017.178327

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5792279/
https://www.ncbi.nlm.nih.gov/pubmed/29170251
http://dx.doi.org/10.3324/haematol.2017.178327

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