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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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Publicat a:Haematologica
Autors principals: Donadon, Irving, McVey, John H., Garagiola, Isabella, Branchini, Alessio, Mortarino, Mimosa, Peyvandi, Flora, Bernardi, Francesco, Pinotti, Mirko
Format: Artigo
Idioma:Inglês
Publicat: Ferrata Storti Foundation 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5792279/
https://ncbi.nlm.nih.gov/pubmed/29170251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.178327
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