surveillance mechanisms in transfected cells responsible for congenital afibrinogenemia: escape from RNA Expression and analysis of a split premature termination codon in FGG

@inproceedings{Moerloose2004surveillanceMI,
  title={surveillance mechanisms in transfected cells responsible for congenital afibrinogenemia: escape from RNA Expression and analysis of a split premature termination codon in FGG},
  author={Philippe A. de Moerloose and M Neerman-Arbez and Myrna Germanos-Haddad and Konstantinos Tzanidakis and Dũng Gs. Ts Vũ and Samuel Deutsch and Armelle David and Michael Aug. Morris and Lucie Schmidheiny},
  year={2004}
}
Congenital afibrinogenemia, the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen. The disease is caused by mutations in one of the three fibrinogen genes FGG, FGA and FGB, clustered on the long arm of human chromosome 4. The majority of cases are due to null mutations in the FGA gene although one would expect the three genes to be equally implicated. However, most patients studied so far are of Caucasian origin, and therefore the identification… CONTINUE READING

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