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Article

Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.

Thrombosis and haemostasis - 1 Apr 2007

Monaldini Luca, Asselta Rosanna, Duga Stefano, Peyvandi Flora, Karimi Mehran, Malcovati Massimo, Tenchini Maria Luisa

Abstract excerpt

Congenital afibrinogenemia (CAF) is a rare coagulation disorder characterized by very low or unmeasurable levels of functional and immunoreactive fibrinogen in plasma, associated with a hemorrhagic phenotype of variable severity. It is transmitted as an autosomal recessive trait (prevalence 1:1,000,000) and is invariantly associated with mutations affecting one of the three fibrinogen genes (FGA, FGB, and FGG,...

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Source

Identifiers

PMID: 17393016

Genes

FGA
FGB
FGG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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