Free Access
Issue |
Med Sci (Paris)
Volume 22, Number 2, Février 2006
|
|
---|---|---|
Page(s) | 117 - 120 | |
Section | Nouvelles | |
DOI | https://doi.org/10.1051/medsci/2006222117 | |
Published online | 15 February 2006 |
- Rabe F, Salomon E. Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch Intern Med 1920; 95 : 2–14. [Google Scholar]
- Neerman-Arbez M, Honsberger A, Antonarakis SE, et al. Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia. J Clin Invest 1999; 103 : 215–8. [Google Scholar]
- Terasawa F, Fujita K, Okumura N. Residue gamma153Cys is essential for the formation of the complexes Aalphagamma and Bbetagamma, assembly intermediates for the AalphaBbetagamma complex and intact fibrinogen. Clin Chim Acta2005; 353 : 157–64. [Google Scholar]
- Duga S, Asselta R, Santagostino E, et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood 2000; 95 : 1336–41. [Google Scholar]
- Vu D, Bolton-Maggs PH, Parr JR, et al. Congenital afibrinogenemia : identification and expression of a missense mutation in FGB impairing fibrinogen secretion. Blood 2003; 102 : 4413–5. [Google Scholar]
- Spena S, Asselta R, Duga S, et al. Congenital afibrinogenemia : intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene. Biochim Biophys Acta 2003; 1639 : 87–94. [Google Scholar]
- Vu D, de Moerloose P, Batorova A, et al. Hypofibrinogenemia due to a novel FGG missense mutation (W253C) in the gamma-chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42 : e57. [Google Scholar]
- Duga S, Braidotti P, Asselta R, et al. Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD) : comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen versus the ERSD-associated gamma-G284R mutant. J Thromb Haemost 2005; 3 : 724–32. [Google Scholar]
- Neerman-Arbez M, Vu D, Abu-Libdeh B, et al. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood 2003; 101 : 3492–4. [Google Scholar]
- Vu D, Di Sanza C, Caille D, et al. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia. Hum Mol Genet 2005; 14 : 3271–80. [Google Scholar]
- Welch, WJ. Role of quality control pathways in human diseases involving protein misfolding. Semin Cell Dev Biol 2004; 15 : 31–8. [Google Scholar]
- Yang Z, Kollman JM, Pandi L, Doolittle RF. Crystal structure of native chicken fibrinogen at 2.7 A resolution. Biochemistry 2001; 40 : 12515–23. [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.