Case Reports
Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (gamma Ala341Thr, Bbeta Tyr326Cys and Aalpha Asp496Asn)
- PMID: 17849064
Item in Clipboard
Case Reports
Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (gamma Ala341Thr, Bbeta Tyr326Cys and Aalpha Asp496Asn)
Thromb Haemost.
2007 Sep.
No abstract available
Similar articles
-
Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.Haemophilia. 2008 May;14(3):630-3. doi: 10.1111/j.1365-2516.2008.01692.x. Epub 2008 Apr 3. Haemophilia. 2008. PMID: 18393984 No abstract available.
-
Three cases of abnormal fibrinogens: sumperk (Bbeta His67Leu), Unicov (Bbeta Gly414Ser), and Brno (gammaArg275His).Thromb Haemost. 2008 Dec;100(6):1199-200. Thromb Haemost. 2008. PMID: 19132250 No abstract available.
-
A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.Thromb Haemost. 2006 Jun;95(6):931-5. doi: 10.1160/TH06-01-0020. Thromb Haemost. 2006. PMID: 16732370
-
Rare inherited disorders of fibrinogen.Haemophilia. 2008 Nov;14(6):1151-8. doi: 10.1111/j.1365-2516.2008.01831.x. Haemophilia. 2008. PMID: 19141154 Review.
-
The molecular basis of quantitative fibrinogen disorders.J Thromb Haemost. 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x. J Thromb Haemost. 2006. PMID: 16999847 Review.
Cited by
-
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.Life (Basel). 2021 Mar 5;11(3):202. doi: 10.3390/life11030202. Life (Basel). 2021. PMID: 33807613 Free PMC article.
-
The natural occurrence of human fibrinogen variants disrupting inter-chain disulfide bonds (A{alpha}Cys36Gly, A{alpha}Cys36Arg and A{alpha}Cys45Tyr) confirms the role of N-terminal A{alpha} disulfide bonds in protein assembly and secretion.Haematologica. 2011 Aug;96(8):1226-30. doi: 10.3324/haematol.2010.029801. Epub 2011 Apr 1. Haematologica. 2011. PMID: 21459789 Free PMC article.
-
Fibrinogen αC domain: Its importance in physiopathology.Res Pract Thromb Haemost. 2019 Feb 15;3(2):173-183. doi: 10.1002/rth2.12183. eCollection 2019 Apr. Res Pract Thromb Haemost. 2019. PMID: 31011701 Free PMC article. Review.
-
Pediatric patient with fibrinogen Villeurbanne II presenting with an unprovoked portal vein thrombosis.Blood Adv. 2022 Jul 26;6(14):4297-4300. doi: 10.1182/bloodadvances.2022006992. Blood Adv. 2022. PMID: 35877135 Free PMC article. No abstract available.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources