Literature DB >> 15634284

Homozygous nonsense mutation (Cys72-->stop) in the human F7 gene: a not life-threatening mutation despite the absence of circulating factor VII.

O Chafa, A-M Fischer, A Reghis, J Tapon-Bretaudiere.   

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Year:  2005        PMID: 15634284     DOI: 10.1111/j.1538-7836.2004.01089.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN: 1538-7836            Impact factor:   5.824


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  2 in total

1.  Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

Authors:  Alessio Branchini; Lara Rizzotto; Guglielmo Mariani; Mariasanta Napolitano; Mario Lapecorella; Muriel Giansily-Blaizot; Rosella Mari; Alessandro Canella; Mirko Pinotti; Francesco Bernardi
Journal:  Haematologica       Date:  2011-12-16       Impact factor: 9.941

Review 2.  Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

Authors:  Silvia Lombardi; Maria Francesca Testa; Mirko Pinotti; Alessio Branchini
Journal:  Int J Mol Sci       Date:  2020-12-11       Impact factor: 5.923

  2 in total

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