Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Thromb Haemost 2003; 90(04): 757-758
DOI: 10.1160/TH03-04-0201
DOI: 10.1160/TH03-04-0201
Case Report
Fibrinogen Otsu I:A γ Asn319,Asp320 deletion dysfibrinogen identified in an asymptomatic pregnant woman
Financial support: This work was supported by a grant from the Charitable Trust Clinical Pathology Research Foundation of Japan.Further Information
Publication History
Received
01 April 2003
Accepted after resubmission
10 June 2003
Publication Date:
05 December 2017 (online)
-
References
- 1 http://www.geht.org/pages/database_fibrino_uk.html
- 2 Koopman J, Haverkate F, Briet E. et al. A congenitally abnormal fibrinogen (Vlissingen) with a 6-base deletion in the γ-chain gene, causing defective calcium binding and impaired fibrin polymerization. J Biol Chem 1991; 266: 13456-61.
- 3 Haverkate S, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC subcommittee on fibrino-gen. Thromb Haemost 1995; 73: 151-61.
- 4 Terasawa F, Okumura N, Kitano K. et al. Hypofibrinogenemia associates with a heterozygous missense mutation γ153Cys to Arg (Matsumoto IV): In vitro expression demonstrates defective secretion of the variant fibrinogen. Blood 1999; 94: 4122-31.
- 5 Okumura N, Gorkun OV, Lord ST. Severely impaired polymerization of recombinant fibrinogen γ-364 Asp His, the substitution discovered in a heterozygous individual. J Biol Chem 1997; 272: 29596-601.
- 6 Hogan KA, Gorkun OV, Lounes KC. et al. Recombinant fibrinogen Vlissingen/Frank-furt IV. J Biol Chem 2000; 275: 17778-85.
- 7 Hogan KA, Lord ST, Okumura N. et al. A functional assay suggests that heterodimers exist in two C-terminal γ-chain dysfibrino-gens: Matsumoto I and Vlissingen/Frankfurt IV. Thromb Haemost 2000; 83: 592-5.