A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia-Reference-Cited by-同舟云学术

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A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia

Published:2013-03 Issue:3 Volume:50 Page:177-181
ISSN:1079-9796
Container-title:Blood Cells, Molecules, and Diseases
language:en
Short-container-title:Blood Cells, Molecules, and Diseases

Author:

Marchi Rita,Brennan Stephen,Meyer Michael,Rojas Héctor,Kanzler Daniela,De Agrela Marisela,Ruiz-Saez Arlette

Publisher

Elsevier BV

Subject

Cell Biology,Hematology,Molecular Biology,Molecular Medicine

Reference31 articles.

1. Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins;Vu;J. Thromb. Haemost.,2007

2. Fibrinogen and Fibrin: Structure and Functional Aspects,2011

3. Fibrinogen non-inherited heterogeneity and its relationship to function in health and disease;Henschen-Edman;Ann. N. Y. Acad. Sci.,2001

4. The role of sialic acid in the dysfibrinogenemia associated with liver disease: distribution of sialic acid on the constituent chains;Martinez;Blood,1983

5. Abnormal sialic acid content of the dysfibrinogenemia associated with liver disease;Martinez;J. Clin. Invest.,1978

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Thrombosis-associated hypofibrinogenemia: novel abnormal fibrinogen variant FGG c.8G>A with oxidative posttranslational modifications;Blood Coagulation & Fibrinolysis;2022-01-21

2. The β‐chain mutation p.Trp433Stop impairs fibrinogen secretion: A novel nonsense mutation associated with hypofibrinogenemia;International Journal of Laboratory Hematology;2021-06-29

3. A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype;Biomedicines;2020-12-13

4. Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders;International Journal of Molecular Sciences;2017-12-29

5. Laboratory and Genetic Investigation of Mutations Accounting for Congenital Fibrinogen Disorders;Seminars in Thrombosis and Hemostasis;2016-03-28

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