en
Scientific article
Case report
English

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

Published inBlood coagulation & fibrinolysis, vol. 25, no. 3, p. 280-282
Publication date2014
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.

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 & fibrinolysis, 2014, vol. 25, n° 3, p. 280–282. doi: 10.1097/MBC.0000000000000039
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ISSN of the journal0957-5235
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Creation08/13/2014 10:28:00 AM
First validation08/13/2014 10:28:00 AM
Update time03/14/2023 9:34:24 PM
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