Thromb Haemost 2014; 111(04): 565-566
DOI: 10.1160/TH14-03-0202
Editorial Focus
Schattauer GmbH

A novel method to detect causative mutations in fibrinogen, using a small amount of blood processed through HPLC and time of flight (TOF) mass spectrometry

Pablo García de Frutos
1   Department of Cell Death and Proliferation, Institute of Biomedical Research of Barcelona (IIBB-CSIC, IDIBAPS), Barcelona, Spain
› Author Affiliations
Further Information

Publication History

Received: 05 March 2014

Accepted: 06 March 2014

Publication Date:
29 November 2017 (online)

 

Editorial Focus on: Brennan et al. Thromb Haemost 2014; 111: 679-684.

 
  • References

  • 1 Weisel JW, Litvinov RI. Mechanisms of fibrin polymerization and clinical implications.. Blood 2013; 121: 1712-9.
  • 2 Jeff JM, Brown-Gentry K, Crawford DC. Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey.. Thromb Haemost 2012; 107: 458-67.
  • 3 Zhang J, Zhao X, Wang Z. et al. A novel fibrinogen B beta chain frameshift mutation causes congenital afibrinogenaemia.. Thromb Haemost 2013; 110: 76-82.
  • 4 Westbury SK, Duval C, Philippou H. et al. Partial deletion of the C-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis.. Thromb Haemost 2013; 110: 1135-44.
  • 5 Brennan SO, Chitlur M. Hypodysfibrinogenaemia and thrombosis in association with a new fibrinogenchain with two mutations (114Tyr→His, and 320Asp deleted).. Thromb Haemost 2013; 109: 1180-2.
  • 6 Brennan SO, Zebeljan D, Ho LL. Thrombosis in association with a novel substitution (346Gly→Val) at an absolutely conserved site in the fibrinogenchain.. Thromb Haemost 2013; 109: 757-8.
  • 7 Riedelová-Reicheltová Z, Kotlín R, Suttnar J. et al. A novel natural mutation A αPhe98Ile in the fibrinogen coiled-coil affects fibrinogen function.. Thromb Haemost 2014; 111: 79-87.
  • 8 Park R, Ping L, Song J. et al. Fibrinogen residue Ala341 is necessary for calcium binding and “A-a” interactions.. Thromb Haemost 2012; 107: 875-83.
  • 9 Park R, Ping L, Song J. et al. An engineered fibrinogen variant A Q328,366P does not polymerise normally, but retains the ability to formcross-links.. Thromb Haemost 2013; 109: 199-206.
  • 10 Marchi R, Walton BL, McGary CS. et al. Dysregulated coagulation associated with hypofibrinogenaemia and plasma hypercoagulability: implications for identifying coagulopathic mechanisms in humans.. Thromb Haemost 2012; 108: 516-26.
  • 11 Brennan SO, Mangos H, Faed JM. Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative 211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia.. Thromb Haemost 2014; 111: 679-684.