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        Thromb Haemost 2016; 116(02): 394-396
DOI: 10.1160/TH16-02-0078
   DOI: 10.1160/TH16-02-0078
Letters to the Editor
   Hypofibrinogenaemia with novel mutations (γ228Leu→Leu and γ229Gly→Glu) at neighbouring codons; allelic phase and expression level
Authors
Further Information
            
               
                  
            
         
      
   Publication History
Received:
                     01 February 2016
Accepted after minor revision:
                     31 March 2016
Publication Date:
09 March 2018 (online)
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References
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 - 3 Haverkate F, Samama M.. Familial dysfibrinogenaemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995; 73: 151-161.
 - 4 Exome Variant Server. NHLBI GO Exome Sequencing Project (ESP). Seattle, WA. (URL: http://evs.gs.washington.edu/EVS/ ) Accessed January 1, 2016.
 - 5 Brennan SO. et al. Benign FGB (148Lys→Asn, and 448Arg→Lys), and novel causative v211Tyr→His mutation distinguished by time of flight mass spectrometry in a family with hypofibrinogenaemia. Thromb and Haemost 2014; 111: 679-684.
 - 6 Brennan SO. et al. Novel FGG variant (v339C→S) confirms importance of the ν326–339 disulphide bond for plasma expression of newly synthesised fibrinogen. Thromb Haemost 2015; 113: 903-905.
 - 7 Vu D. et al. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion. J Med Genet 2005; 42: e57.
 - 8 Brennan SO. et al. Novel ν230 Asn→Asp Substitution in fibrinogen Middlemore associated with hypofibrinogenaemia. Thromb Haemost 2005; 93: 1196-1197.
 - 9 Hanss M. et al. Four cases of hypofibrinogenemia associated with four novel mutations. J Thromb Haemost 2005; 3: 2347-2349.
 - 10 Liqinga Z. et al. Novel mutations (γTrp208Leu and γ;yLys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families. Blood Coagulation & Fibrinolysis 2014; 25: 894-897.