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Pinotti, M
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[InstanceEdit:9666357] Shamovsky, Veronica, 2019年11月05日
dbId
9666372
displayName
Pinotti, M
firstname
Mirko
initial
M
publications
[LiteratureReference:9672824] Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
[LiteratureReference:9929035] A frequent human coagulation Factor VII mutation (A294V, c152) in loop 140s affects the interaction with activators, tissue factor and substrates
[LiteratureReference:9672847] Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
[LiteratureReference:9672428] Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
[LiteratureReference:9672822] Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
[LiteratureReference:9670906] Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity
[LiteratureReference:9666367] Clustered
F8
missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
schemaClass
Person
surname
Pinotti
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