Literature DB >> 16894470

Fibrinogen Montreal: a novel missense mutation (Aa D496N) associated with hypofibrinogenaemia.

Campbell R Sheen1, Stephen O Brennan, Nada Jabado, Peter M George.   

Abstract

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Year:  2006        PMID： 16894470

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


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  4 in total

1.  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.

Authors:  Michel Hanss; Catherine Pouymayou; Marie-Thérèse Blouch; Franck Lellouche; Patrick Ffrench; Robert Rousson; Jean-François Abgrall; Pierre-Emmanuel Morange; Florence Quélin; Philippe de Mazancourt
Journal:  Haematologica       Date:  2011-04-01       Impact factor: 9.941

2.  Loss of fibrinogen in zebrafish results in an asymptomatic embryonic hemostatic defect and synthetic lethality with thrombocytopenia.

Authors:  Zhilian Hu; Kari I Lavik; Yang Liu; Andy H Vo; Catherine E Richter; Jorge Di Paola; Jordan A Shavit
Journal:  J Thromb Haemost       Date:  2019-02-25       Impact factor: 5.824

3.  Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.

Authors:  Arshi Naz; Arijit Biswas; Tehmina Nafees Khan; Anne Goodeve; Nisar Ahmed; Nazish Saqlain; Shariq Ahmed; Ikram Din Ujjan; Tahir S Shamsi; Johannes Oldenburg
Journal:  Thromb J       Date:  2017-09-12

4.  Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.

Authors:  Soraya Hadjali-Saichi; Philippe de Mazancourt; Jacqueline Tapon-Bretaudière; Tristan Mirault; Kahina Guenounou; Issam Frigaa; Anne-Marie Fischer; Ouerdia Chafa; Dominique Helley
Journal:  Haemophilia       Date:  2022-04-30       Impact factor: 4.263
  4 in total

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