Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.
about
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis/activity.The carboxyl-terminal region is NOT essential for secreted and functional levels of coagulation factor X.
P2860
Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年論文
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2013年论文
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2013年论文
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name
Replacement of the Y450 (c234) ...... secretion and enzyme activity.
@en
type
label
Replacement of the Y450 (c234) ...... secretion and enzyme activity.
@en
prefLabel
Replacement of the Y450 (c234) ...... secretion and enzyme activity.
@en
P2093
P2860
P1433
P1476
Replacement of the Y450 (c234) ...... secretion and enzyme activity.
@en
P2093
Alessio Branchini
Francesca Biondo
Francesco Bernardi
Maria Gabriella Mazzucconi
Maria Patrizia Bicocchi
Matteo Campioni
Mirko Pinotti
Rosella Mari
P2860
P304
P356
10.1016/J.FEBSLET.2013.08.019
P407
P577
2013-08-27T00:00:00Z