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Blood, 1 December 2004, Vol. 104, No. 12, pp. 3618-3623. Prepublished online as a Blood First Edition Paper on July 29, 2004; DOI 10.1182/blood-2004-06-2312. This Article Full Text Full Text (PDF) All Versions of this Article: 2004-06-2312v1 104/12/3618    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Neerman-Arbez, M. Articles by de Moerloose, P. Search for Related Content PubMed PubMed Citation Articles by Neerman-Arbez, M. Articles by de Moerloose, P. Related Collections Hemostasis, Thrombosis, and Vascular Biology Gene Expression Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Marguerite Neerman-Arbez, Myrna Germanos-Haddad, Konstantinos Tzanidakis, Dung Vu, Samuel Deutsch, Armelle David, Michael A. Morris, and Philippe de Moerloose From the Department of Genetic Medicine and Development, University Medical School, Geneva, Switzerland; the Division of Angiology and Hemostasis, and the Division of Medical Genetics, University Hospital, Geneva, Switzerland; and the Hematology and Immunology Laboratory, Hôtel-Dieu Hospital, Beirut, Lebanon. Congenital afibrinogenemia, the most severe form of fibrinogen deficiency, is characterized by the complete absence of fibrinogen. The disease is caused by mutations in 1 of the 3 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 3 genes to be equally implicated. However, most patients studied so far are white, and therefore the identification of causative mutations in non-European families is necessary to establish if this finding holds true in all ethnic groups. In this study, we report the identification of a novel nonsense mutation (Arg134Xaa) in the FGG gene responsible for congenital afibrinogenemia in 10 patients from Lebanon. Expression studies in COS-7 cells demonstrated that the Arg134Xaa codon, which is encoded by adjacent exons (TG-intron 4-A) affected neither mRNA splicing nor stability, but led to the production of an unstable, severely truncated fibrinogen chain that is not incorporated into a functional fibrinogen hexamer. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: D. Vu, C. Di Sanza, D. Caille, P. de Moerloose, H. Scheib, P. Meda, and M. Neerman-Arbez Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia Hum. Mol. Genet., November 1, 2005; 14(21): 3271 - 3280. [Abstract] [Full Text] [PDF] D Vu, P de Moerloose, A Batorova, J Lazur, L Palumbo, and M Neerman-Arbez Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the {gamma} chain globular domain impairing fibrinogen secretion J. Med. Genet., September 1, 2005; 42(9): e57 - e57. [Abstract] [Full Text] [PDF]

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