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Article

Fibrin clot properties to assess the bleeding phenotype in unrelated patients with hypodysfibrinogenemia due to novel fibrinogen mutations.

Thrombosis research - 1 Jan 2021

Marchi Rita, Vilar Rui, Durual Stéphane, Goodyer Matthew, Gay Valérie, Neerman-Arbez Marguerite, Casini Alessandro

Abstract excerpt

Congenital hypodysfibrinogenemia is a rare fibrinogen disorder, defined by decreased levels of a dysfunctional fibrinogen. We present the functional and structural characterization of two new fibrinogen variants. A duplication of 32 bases in FGA exon 5, p.Ser382GlyfsTer50 was identified in a patient (P1) with history of hemoptysis and traumatic cerebral bleeding. A missense mutation in FGG exon 8, p.Ala353Ser was...

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Identifiers

PMID: 33186848
DOI: 10.1016/j.thromres.2020.11.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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