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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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| Udgivet i: | Haematologica |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Ferrata Storti Foundation
2018
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| Fag: | |
| Online adgang: | 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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