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Title

Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A.

Authors
De Maistre, Emmanuel
Casini-Stuppi, Virginie
Published in Blood Coagulation and Fibrinolysis. 2014, vol. 25, no. 3, p. 280-2
Abstract Congenital dysfibrinogenemias are characterized by biosynthesis of a structurally abnormal fibrinogen molecule that exhibits reduced functional levels compared with the level of fibrinogen antigen. To date a large number of mutations have been identified in patients with dysfibrinogenemia. Mutations occurring at the thrombin cleavage site (Arg16-Gly17 in the mature alpha-chain) at the amino-terminal end of the fibrinogen alpha chain are a common cause of the disease. These mutations causing abnormal fibrin polymerization are associated with different phenotypes. Here, we report the identification of a novel heterozygous missense mutation of Glycine 17 (Gly17Asp) in a female patient with mild bleeding manifestations, and compare it with other previously reported mutations also resulting in abnormal knob A.
Identifiers
PMID: 24389539
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Article (Published version) (97 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research groups Bases moléculaires des anomalies génétiques de l'hémostase (504)
Geneva Platelet Group (13)
Citation
(ISO format)
CASINI, Alessandro et al. Fibrinogen geneva II: a new congenitally abnormal fibrinogen alpha chain (Gly17Asp) with a review of similar mutations resulting in abnormal knob A. In: Blood Coagulation and Fibrinolysis, 2014, vol. 25, n° 3, p. 280-2. https://archive-ouverte.unige.ch/unige:39922

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Deposited on : 2014-09-02

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