Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.
about
Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.Hemophilia B: molecular pathogenesis and mutation analysis.Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein FunctionA system for coordinated analysis of translational readthrough and nonsense-mediated mRNA decay.Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity.The higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B.Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.
P2860
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P2860
Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations.
description
2012 nî lūn-bûn
@nan
2012年の論文
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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
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2012年學術文章
@zh-hant
name
Ribosome readthrough accounts ...... ients with nonsense mutations.
@en
Ribosome readthrough accounts ...... ients with nonsense mutations.
@nl
type
label
Ribosome readthrough accounts ...... ients with nonsense mutations.
@en
Ribosome readthrough accounts ...... ients with nonsense mutations.
@nl
prefLabel
Ribosome readthrough accounts ...... ients with nonsense mutations.
@en
Ribosome readthrough accounts ...... ients with nonsense mutations.
@nl
P2093
P2860
P921
P356
P1433
P1476
Ribosome readthrough accounts ...... ients with nonsense mutations.
@en
P2093
Alessandro Canella
Donata Belvini
Francesco Bernardi
Giancarlo Castaman
Giuseppe Tagariello
Matteo Campioni
Pierpaolo Caruso
Sofia Giacomelli
P2860
P304
P356
10.1002/HUMU.22120
P577
2012-06-11T00:00:00Z